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nsv2781783

  • Variant Calls:11
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:1

Links to Other Resources

Source: NCBI

Genome View

Select assembly:
Overlapping variant regions from other studies: 286 SVs from 22 studies. See in: genome view    
Remapped(Score: Perfect):12,403,998-12,403,998Question Mark
Overlapping variant regions from other studies: 286 SVs from 22 studies. See in: genome view    
Remapped(Score: Perfect):12,403,998-12,403,998Question Mark
Overlapping variant regions from other studies: 274 SVs from 21 studies. See in: genome view    
Remapped(Score: Perfect):12,544,499-12,544,499Question Mark
Overlapping variant regions from other studies: 274 SVs from 21 studies. See in: genome view    
Remapped(Score: Perfect):12,544,499-12,544,499Question Mark
Overlapping variant regions from other studies: 195 SVs from 25 studies. See in: genome view    
Remapped(Score: Perfect):27,694,336-27,694,336Question Mark
Overlapping variant regions from other studies: 205 SVs from 25 studies. See in: genome view    
Remapped(Score: Perfect):27,784,444-27,784,444Question Mark
Overlapping variant regions from other studies: 384 SVs from 27 studies. See in: genome view    
Remapped(Score: Perfect):3,276,223-3,276,223Question Mark
Overlapping variant regions from other studies: 384 SVs from 27 studies. See in: genome view    
Remapped(Score: Perfect):3,276,223-3,276,223Question Mark
Overlapping variant regions from other studies: 377 SVs from 23 studies. See in: genome view    
Remapped(Score: Perfect):3,395,937-3,395,937Question Mark
Overlapping variant regions from other studies: 377 SVs from 23 studies. See in: genome view    
Remapped(Score: Perfect):3,395,937-3,395,937Question Mark
Overlapping variant regions from other studies: 208 SVs from 19 studies. See in: genome view    
Remapped(Score: Perfect):40,182,574-40,182,574Question Mark
Overlapping variant regions from other studies: 218 SVs from 22 studies. See in: genome view    
Remapped(Score: Perfect):40,258,284-40,258,284Question Mark
Overlapping variant regions from other studies: 213 SVs from 19 studies. See in: genome view    
Remapped(Score: Perfect):42,736,769-42,736,769Question Mark
Overlapping variant regions from other studies: 209 SVs from 16 studies. See in: genome view    
Remapped(Score: Perfect):42,826,160-42,826,160Question Mark
Overlapping variant regions from other studies: 203 SVs from 21 studies. See in: genome view    
Remapped(Score: Perfect):49,450,600-49,450,600Question Mark
Overlapping variant regions from other studies: 203 SVs from 21 studies. See in: genome view    
Remapped(Score: Perfect):49,450,600-49,450,600Question Mark
Overlapping variant regions from other studies: 200 SVs from 18 studies. See in: genome view    
Remapped(Score: Perfect):49,514,024-49,514,024Question Mark
Overlapping variant regions from other studies: 200 SVs from 18 studies. See in: genome view    
Remapped(Score: Perfect):49,514,024-49,514,024Question Mark
Overlapping variant regions from other studies: 445 SVs from 34 studies. See in: genome view    
Remapped(Score: Perfect):67,679,309-67,679,309Question Mark
Overlapping variant regions from other studies: 445 SVs from 34 studies. See in: genome view    
Remapped(Score: Perfect):67,679,309-67,679,309Question Mark
Overlapping variant regions from other studies: 451 SVs from 26 studies. See in: genome view    
Remapped(Score: Perfect):76,439,333-76,439,333Question Mark
Overlapping variant regions from other studies: 451 SVs from 26 studies. See in: genome view    
Remapped(Score: Perfect):76,439,333-76,439,333Question Mark
Overlapping variant regions from other studies: 286 SVs from 22 studies. See in: genome view    
Submitted genomic12,403,997-12,403,997Question Mark
Overlapping variant regions from other studies: 286 SVs from 22 studies. See in: genome view    
Submitted genomic12,403,997-12,403,997Question Mark
Overlapping variant regions from other studies: 274 SVs from 21 studies. See in: genome view    
Submitted genomic12,544,498-12,544,498Question Mark
Overlapping variant regions from other studies: 274 SVs from 21 studies. See in: genome view    
Submitted genomic12,544,498-12,544,498Question Mark
Overlapping variant regions from other studies: 195 SVs from 25 studies. See in: genome view    
Submitted genomic25,274,300-25,274,300Question Mark
Overlapping variant regions from other studies: 205 SVs from 25 studies. See in: genome view    
Submitted genomic25,364,408-25,364,408Question Mark
Overlapping variant regions from other studies: 384 SVs from 27 studies. See in: genome view    
Submitted genomic3,276,221-3,276,221Question Mark
Overlapping variant regions from other studies: 384 SVs from 27 studies. See in: genome view    
Submitted genomic3,276,221-3,276,221Question Mark
Overlapping variant regions from other studies: 377 SVs from 23 studies. See in: genome view    
Submitted genomic3,395,935-3,395,935Question Mark
Overlapping variant regions from other studies: 377 SVs from 23 studies. See in: genome view    
Submitted genomic3,395,935-3,395,935Question Mark
Overlapping variant regions from other studies: 208 SVs from 19 studies. See in: genome view    
Submitted genomic37,762,538-37,762,538Question Mark
Overlapping variant regions from other studies: 218 SVs from 22 studies. See in: genome view    
Submitted genomic37,838,248-37,838,248Question Mark
Overlapping variant regions from other studies: 213 SVs from 19 studies. See in: genome view    
Submitted genomic40,316,734-40,316,734Question Mark
Overlapping variant regions from other studies: 209 SVs from 16 studies. See in: genome view    
Submitted genomic40,406,125-40,406,125Question Mark
Overlapping variant regions from other studies: 203 SVs from 21 studies. See in: genome view    
Submitted genomic46,976,970-46,976,970Question Mark
Overlapping variant regions from other studies: 203 SVs from 21 studies. See in: genome view    
Submitted genomic46,976,970-46,976,970Question Mark
Overlapping variant regions from other studies: 200 SVs from 18 studies. See in: genome view    
Submitted genomic47,040,394-47,040,394Question Mark
Overlapping variant regions from other studies: 200 SVs from 18 studies. See in: genome view    
Submitted genomic47,040,394-47,040,394Question Mark
Overlapping variant regions from other studies: 445 SVs from 34 studies. See in: genome view    
Submitted genomic65,346,546-65,346,546Question Mark
Overlapping variant regions from other studies: 445 SVs from 34 studies. See in: genome view    
Submitted genomic65,346,546-65,346,546Question Mark
Overlapping variant regions from other studies: 451 SVs from 26 studies. See in: genome view    
Submitted genomic74,151,289-74,151,289Question Mark
Overlapping variant regions from other studies: 451 SVs from 26 studies. See in: genome view    
Submitted genomic74,151,289-74,151,289Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrStartStopstrand
nsv2781783RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000018.10Chr1812,403,99812,403,998+
nsv2781783RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000018.10Chr1812,403,99812,403,998-
nsv2781783RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000018.10Chr1812,544,49912,544,499+
nsv2781783RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000018.10Chr1812,544,49912,544,499-
nsv2781783RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000018.10Chr1827,694,33627,694,336-
nsv2781783RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000018.10Chr1827,784,44427,784,444+
nsv2781783RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000018.10Chr183,276,2233,276,223+
nsv2781783RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000018.10Chr183,276,2233,276,223-
nsv2781783RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000018.10Chr183,395,9373,395,937+
nsv2781783RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000018.10Chr183,395,9373,395,937-
nsv2781783RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000018.10Chr1840,182,57440,182,574+
nsv2781783RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000018.10Chr1840,258,28440,258,284+
nsv2781783RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000018.10Chr1842,736,76942,736,769+
nsv2781783RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000018.10Chr1842,826,16042,826,160+
nsv2781783RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000018.10Chr1849,450,60049,450,600+
nsv2781783RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000018.10Chr1849,450,60049,450,600-
nsv2781783RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000018.10Chr1849,514,02449,514,024+
nsv2781783RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000018.10Chr1849,514,02449,514,024-
nsv2781783RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000018.10Chr1867,679,30967,679,309+
nsv2781783RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000018.10Chr1867,679,30967,679,309-
nsv2781783RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000018.10Chr1876,439,33376,439,333+
nsv2781783RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000018.10Chr1876,439,33376,439,333+
nsv2781783Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000018.9Chr1812,403,99712,403,997+
nsv2781783Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000018.9Chr1812,403,99712,403,997-
nsv2781783Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000018.9Chr1812,544,49812,544,498+
nsv2781783Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000018.9Chr1812,544,49812,544,498-
nsv2781783Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000018.9Chr1825,274,30025,274,300-
nsv2781783Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000018.9Chr1825,364,40825,364,408+
nsv2781783Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000018.9Chr183,276,2213,276,221+
nsv2781783Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000018.9Chr183,276,2213,276,221-
nsv2781783Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000018.9Chr183,395,9353,395,935+
nsv2781783Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000018.9Chr183,395,9353,395,935-
nsv2781783Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000018.9Chr1837,762,53837,762,538+
nsv2781783Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000018.9Chr1837,838,24837,838,248+
nsv2781783Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000018.9Chr1840,316,73440,316,734+
nsv2781783Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000018.9Chr1840,406,12540,406,125+
nsv2781783Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000018.9Chr1846,976,97046,976,970+
nsv2781783Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000018.9Chr1846,976,97046,976,970-
nsv2781783Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000018.9Chr1847,040,39447,040,394+
nsv2781783Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000018.9Chr1847,040,39447,040,394-
nsv2781783Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000018.9Chr1865,346,54665,346,546+
nsv2781783Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000018.9Chr1865,346,54665,346,546-
nsv2781783Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000018.9Chr1874,151,28974,151,289+
nsv2781783Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000018.9Chr1874,151,28974,151,289+

Variant Call Information

Variant Call IDTypeSample IDMethodAnalysisClinVar IDOther Calls in this Sample and Study
nssv13659963intrachromosomal translocationDGAP167SequencingSplit read and paired-end mappingSCV00032080311
nssv13659969copy number gainDGAP167SequencingSplit read and paired-end mappingSCV00032080311
nssv13659961intrachromosomal translocationDGAP167SequencingSplit read and paired-end mappingSCV00032080311
nssv13659966intrachromosomal translocationDGAP167SequencingSplit read and paired-end mappingSCV00032080311
nssv13659970copy number gainDGAP167SequencingSplit read and paired-end mappingSCV00032080311
nssv13659965intrachromosomal translocationDGAP167SequencingSplit read and paired-end mappingSCV00032080311
nssv13659968intrachromosomal translocationDGAP167SequencingSplit read and paired-end mappingSCV00032080311
nssv13659964intrachromosomal translocationDGAP167SequencingSplit read and paired-end mappingSCV00032080311
nssv13659967intrachromosomal translocationDGAP167SequencingSplit read and paired-end mappingSCV00032080311
nssv13659971copy number gainDGAP167SequencingSplit read and paired-end mappingSCV00032080311
nssv13659972copy number lossDGAP167SequencingSplit read and paired-end mappingSCV00032080311

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrStartStopstrand
nssv13659963RemappedPerfectGRCh38.p12First PassNC_000018.10Chr183,276,2233,276,223-
nssv13659969RemappedPerfectNC_000018.10:g.327
6223dupNC_000018.1
0:g.3395937dup		GRCh38.p12First PassNC_000018.10Chr183,276,2233,276,223
nssv13659961RemappedPerfectGRCh38.p12First PassNC_000018.10Chr183,395,9373,395,937-
nssv13659969RemappedPerfectNC_000018.10:g.327
6223dupNC_000018.1
0:g.3395937dup		GRCh38.p12First PassNC_000018.10Chr183,395,9373,395,937
nssv13659966RemappedPerfectGRCh38.p12First PassNC_000018.10Chr1812,403,99812,403,998-
nssv13659970RemappedPerfectNC_000018.10:g.124
03998dupNC_000018.
10:g.12544499dup		GRCh38.p12First PassNC_000018.10Chr1812,403,99812,403,998
nssv13659965RemappedPerfectGRCh38.p12First PassNC_000018.10Chr1812,544,49912,544,499-
nssv13659970RemappedPerfectNC_000018.10:g.124
03998dupNC_000018.
10:g.12544499dup		GRCh38.p12First PassNC_000018.10Chr1812,544,49912,544,499
nssv13659968RemappedPerfectGRCh38.p12First PassNC_000018.10Chr1827,694,33627,694,336-
nssv13659961RemappedPerfectGRCh38.p12First PassNC_000018.10Chr1827,784,44427,784,444+
nssv13659963RemappedPerfectGRCh38.p12First PassNC_000018.10Chr1840,182,57440,182,574+
nssv13659964RemappedPerfectGRCh38.p12First PassNC_000018.10Chr1840,258,28440,258,284+
nssv13659966RemappedPerfectGRCh38.p12First PassNC_000018.10Chr1842,736,76942,736,769+
nssv13659967RemappedPerfectGRCh38.p12First PassNC_000018.10Chr1842,826,16042,826,160+
nssv13659965RemappedPerfectGRCh38.p12First PassNC_000018.10Chr1849,450,60049,450,600-
nssv13659971RemappedPerfectNC_000018.10:g.494
50600dupNC_000018.
10:g.49514024dup		GRCh38.p12First PassNC_000018.10Chr1849,450,60049,450,600
nssv13659964RemappedPerfectGRCh38.p12First PassNC_000018.10Chr1849,514,02449,514,024-
nssv13659971RemappedPerfectNC_000018.10:g.494
50600dupNC_000018.
10:g.49514024dup		GRCh38.p12First PassNC_000018.10Chr1849,514,02449,514,024
nssv13659967RemappedPerfectGRCh38.p12First PassNC_000018.10Chr1867,679,30967,679,309-
nssv13659972RemappedPerfectNC_000018.10:g.676
79309delNC_000018.
10:g.76439333del		GRCh38.p12First PassNC_000018.10Chr1867,679,30967,679,309
nssv13659968RemappedPerfectGRCh38.p12First PassNC_000018.10Chr1876,439,33376,439,333+
nssv13659972RemappedPerfectNC_000018.10:g.676
79309delNC_000018.
10:g.76439333del		GRCh38.p12First PassNC_000018.10Chr1876,439,33376,439,333
nssv13659963Submitted genomicGRCh37 (hg19)NC_000018.9Chr183,276,2213,276,221-
nssv13659969Submitted genomic[NC_000018.9:g.327
6221dup];[NC_00001
8.9:g.3395935dup]		GRCh37 (hg19)NC_000018.9Chr183,276,2213,276,221
nssv13659961Submitted genomicGRCh37 (hg19)NC_000018.9Chr183,395,9353,395,935-
nssv13659969Submitted genomic[NC_000018.9:g.327
6221dup];[NC_00001
8.9:g.3395935dup]		GRCh37 (hg19)NC_000018.9Chr183,395,9353,395,935
nssv13659966Submitted genomicGRCh37 (hg19)NC_000018.9Chr1812,403,99712,403,997-
nssv13659970Submitted genomic[NC_000018.9:g.124
03997dup];[NC_0000
18.9:g.12544498dup
]		GRCh37 (hg19)NC_000018.9Chr1812,403,99712,403,997
nssv13659965Submitted genomicGRCh37 (hg19)NC_000018.9Chr1812,544,49812,544,498-
nssv13659970Submitted genomic[NC_000018.9:g.124
03997dup];[NC_0000
18.9:g.12544498dup
]		GRCh37 (hg19)NC_000018.9Chr1812,544,49812,544,498
nssv13659968Submitted genomicGRCh37 (hg19)NC_000018.9Chr1825,274,30025,274,300-
nssv13659961Submitted genomicGRCh37 (hg19)NC_000018.9Chr1825,364,40825,364,408+
nssv13659963Submitted genomicGRCh37 (hg19)NC_000018.9Chr1837,762,53837,762,538+
nssv13659964Submitted genomicGRCh37 (hg19)NC_000018.9Chr1837,838,24837,838,248+
nssv13659966Submitted genomicGRCh37 (hg19)NC_000018.9Chr1840,316,73440,316,734+
nssv13659967Submitted genomicGRCh37 (hg19)NC_000018.9Chr1840,406,12540,406,125+
nssv13659965Submitted genomicGRCh37 (hg19)NC_000018.9Chr1846,976,97046,976,970-
nssv13659971Submitted genomic[NC_000018.9:g.469
76970dup];[NC_0000
18.9:g.47040394dup
]		GRCh37 (hg19)NC_000018.9Chr1846,976,97046,976,970
nssv13659964Submitted genomicGRCh37 (hg19)NC_000018.9Chr1847,040,39447,040,394-
nssv13659971Submitted genomic[NC_000018.9:g.469
76970dup];[NC_0000
18.9:g.47040394dup
]		GRCh37 (hg19)NC_000018.9Chr1847,040,39447,040,394
nssv13659967Submitted genomicGRCh37 (hg19)NC_000018.9Chr1865,346,54665,346,546-
nssv13659972Submitted genomic[NC_000018.9:g.653
46546del];[NC_0000
18.9:g.74151289del
]		GRCh37 (hg19)NC_000018.9Chr1865,346,54665,346,546
nssv13659968Submitted genomicGRCh37 (hg19)NC_000018.9Chr1874,151,28974,151,289+
nssv13659972Submitted genomic[NC_000018.9:g.653
46546del];[NC_0000
18.9:g.74151289del
]		GRCh37 (hg19)NC_000018.9Chr1874,151,28974,151,289

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDSample IDHGVSTypeClinical InterpretationClinVar IDGenderOther Calls in this Sample and Study
nssv13659963DGAP167intrachromosomal translocationSCV000320803Female11
nssv13659969DGAP167GRCh37: [NC_000018.9:g.3276221dup];[NC_000018.9:g.3395935dup]copy number gainSCV000320803Female11
nssv13659961DGAP167intrachromosomal translocationSCV000320803Female11
nssv13659966DGAP167intrachromosomal translocationSCV000320803Female11
nssv13659970DGAP167GRCh37: [NC_000018.9:g.12403997dup];[NC_000018.9:g.12544498dup]copy number gainSCV000320803Female11
nssv13659965DGAP167intrachromosomal translocationSCV000320803Female11
nssv13659968DGAP167intrachromosomal translocationSCV000320803Female11
nssv13659964DGAP167intrachromosomal translocationSCV000320803Female11
nssv13659967DGAP167intrachromosomal translocationSCV000320803Female11
nssv13659971DGAP167GRCh37: [NC_000018.9:g.46976970dup];[NC_000018.9:g.47040394dup]copy number gainSCV000320803Female11
nssv13659972DGAP167GRCh37: [NC_000018.9:g.65346546del];[NC_000018.9:g.74151289del]copy number lossSCV000320803Female11

No genotype data were submitted for this variant

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