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nsv2781892

  • Variant Calls:9
  • 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: 131 SVs from 33 studies. See in: genome view    
Remapped(Score: Perfect):196,401-196,401Question Mark
Overlapping variant regions from other studies: 131 SVs from 33 studies. See in: genome view    
Remapped(Score: Perfect):196,401-196,401Question Mark
Overlapping variant regions from other studies: 86 SVs from 19 studies. See in: genome view    
Remapped(Score: Perfect):45,988,641-45,988,641Question Mark
Overlapping variant regions from other studies: 86 SVs from 19 studies. See in: genome view    
Remapped(Score: Perfect):45,988,643-45,988,643Question Mark
Overlapping variant regions from other studies: 232 SVs from 35 studies. See in: genome view    
Remapped(Score: Perfect):628,154-628,154Question Mark
Overlapping variant regions from other studies: 232 SVs from 35 studies. See in: genome view    
Remapped(Score: Perfect):628,154-628,154Question Mark
Overlapping variant regions from other studies: 220 SVs from 23 studies. See in: genome view    
Remapped(Score: Perfect):71,161,949-71,161,949Question Mark
Overlapping variant regions from other studies: 220 SVs from 23 studies. See in: genome view    
Remapped(Score: Perfect):71,161,950-71,161,950Question Mark
Overlapping variant regions from other studies: 384 SVs from 35 studies. See in: genome view    
Remapped(Score: Perfect):18,257,837-18,257,837Question Mark
Overlapping variant regions from other studies: 384 SVs from 35 studies. See in: genome view    
Remapped(Score: Perfect):18,257,839-18,257,839Question Mark
Overlapping variant regions from other studies: 252 SVs from 41 studies. See in: genome view    
Remapped(Score: Perfect):37,845,786-37,845,786Question Mark
Overlapping variant regions from other studies: 289 SVs from 17 studies. See in: genome view    
Remapped(Score: Perfect):10,362,353-10,362,353Question Mark
Overlapping variant regions from other studies: 289 SVs from 17 studies. See in: genome view    
Remapped(Score: Perfect):10,362,353-10,362,353Question Mark
Overlapping variant regions from other studies: 264 SVs from 27 studies. See in: genome view    
Remapped(Score: Perfect):14,765,741-14,765,741Question Mark
Overlapping variant regions from other studies: 264 SVs from 27 studies. See in: genome view    
Remapped(Score: Perfect):14,765,743-14,765,743Question Mark
Overlapping variant regions from other studies: 270 SVs from 23 studies. See in: genome view    
Remapped(Score: Perfect):37,981,629-37,981,629Question Mark
Overlapping variant regions from other studies: 270 SVs from 23 studies. See in: genome view    
Remapped(Score: Perfect):37,981,629-37,981,629Question Mark
Overlapping variant regions from other studies: 96 SVs from 19 studies. See in: genome view    
Remapped(Score: Perfect):158,053-158,053Question Mark
Overlapping variant regions from other studies: 96 SVs from 19 studies. See in: genome view    
Remapped(Score: Perfect):158,053-158,053Question Mark
Overlapping variant regions from other studies: 12 SVs from 6 studies. See in: genome view    
Remapped(Score: Perfect):18,211-18,211Question Mark
Overlapping variant regions from other studies: 12 SVs from 6 studies. See in: genome view    
Remapped(Score: Perfect):18,213-18,213Question Mark
Overlapping variant regions from other studies: 216 SVs from 36 studies. See in: genome view    
Remapped(Score: Perfect):2,084,475-2,084,475Question Mark
Overlapping variant regions from other studies: 131 SVs from 33 studies. See in: genome view    
Submitted genomic196,401-196,401Question Mark
Overlapping variant regions from other studies: 131 SVs from 33 studies. See in: genome view    
Submitted genomic196,401-196,401Question Mark
Overlapping variant regions from other studies: 86 SVs from 19 studies. See in: genome view    
Submitted genomic46,010,192-46,010,192Question Mark
Overlapping variant regions from other studies: 86 SVs from 19 studies. See in: genome view    
Submitted genomic46,010,194-46,010,194Question Mark
Overlapping variant regions from other studies: 232 SVs from 35 studies. See in: genome view    
Submitted genomic628,154-628,154Question Mark
Overlapping variant regions from other studies: 232 SVs from 35 studies. See in: genome view    
Submitted genomic628,154-628,154Question Mark
Overlapping variant regions from other studies: 220 SVs from 23 studies. See in: genome view    
Submitted genomic71,736,081-71,736,081Question Mark
Overlapping variant regions from other studies: 220 SVs from 23 studies. See in: genome view    
Submitted genomic71,736,082-71,736,082Question Mark
Overlapping variant regions from other studies: 384 SVs from 35 studies. See in: genome view    
Submitted genomic18,161,151-18,161,151Question Mark
Overlapping variant regions from other studies: 384 SVs from 35 studies. See in: genome view    
Submitted genomic18,161,153-18,161,153Question Mark
Overlapping variant regions from other studies: 310 SVs from 42 studies. See in: genome view    
Submitted genomic36,205,410-36,205,410Question Mark
Overlapping variant regions from other studies: 11 SVs from 6 studies. See in: genome view    
Submitted genomic1-1Question Mark
Overlapping variant regions from other studies: 289 SVs from 17 studies. See in: genome view    
Submitted genomic10,362,350-10,362,350Question Mark
Overlapping variant regions from other studies: 289 SVs from 17 studies. See in: genome view    
Submitted genomic10,362,350-10,362,350Question Mark
Overlapping variant regions from other studies: 264 SVs from 27 studies. See in: genome view    
Submitted genomic16,138,062-16,138,062Question Mark
Overlapping variant regions from other studies: 264 SVs from 27 studies. See in: genome view    
Submitted genomic16,138,064-16,138,064Question Mark
Overlapping variant regions from other studies: 270 SVs from 23 studies. See in: genome view    
Submitted genomic39,353,931-39,353,931Question Mark
Overlapping variant regions from other studies: 270 SVs from 23 studies. See in: genome view    
Submitted genomic39,353,931-39,353,931Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrStartStopstrand
nsv2781892RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000011.10Chr11196,401196,401+
nsv2781892RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000011.10Chr11196,401196,401-
nsv2781892RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000011.10Chr1145,988,64145,988,641+
nsv2781892RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000011.10Chr1145,988,64345,988,643+
nsv2781892RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000011.10Chr11628,154628,154+
nsv2781892RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000011.10Chr11628,154628,154+
nsv2781892RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000013.11Chr1371,161,94971,161,949+
nsv2781892RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000013.11Chr1371,161,95071,161,950+
nsv2781892RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000017.11Chr1718,257,83718,257,837+
nsv2781892RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000017.11Chr1718,257,83918,257,839+
nsv2781892RemappedPerfectGRCh38.p12Primary AssemblySecond PassNC_000017.11Chr1737,845,78637,845,786+
nsv2781892RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000018.10Chr1810,362,35310,362,353+
nsv2781892RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000018.10Chr1810,362,35310,362,353+
nsv2781892RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000021.9Chr2114,765,74114,765,741+
nsv2781892RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000021.9Chr2114,765,74314,765,743+
nsv2781892RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000021.9Chr2137,981,62937,981,629+
nsv2781892RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000021.9Chr2137,981,62937,981,629-
nsv2781892RemappedPerfectGRCh38.p12ALT_REF_LOCI_1Second PassNT_187586.1Chr11|NT_1
87586.1		158,053158,053+
nsv2781892RemappedPerfectGRCh38.p12ALT_REF_LOCI_1Second PassNT_187586.1Chr11|NT_1
87586.1		158,053158,053+
nsv2781892RemappedPerfectGRCh38.p12PATCHESSecond PassNW_017363819.1Chr17|NW_0
17363819.1		18,21118,211+
nsv2781892RemappedPerfectGRCh38.p12PATCHESSecond PassNW_017363819.1Chr17|NW_0
17363819.1		18,21318,213+
nsv2781892RemappedPerfectGRCh38.p12ALT_REF_LOCI_1First PassNT_187614.1Chr17|NT_1
87614.1		2,084,4752,084,475+
nsv2781892Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000011.9Chr11196,401196,401+
nsv2781892Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000011.9Chr11196,401196,401-
nsv2781892Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000011.9Chr1146,010,19246,010,192+
nsv2781892Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000011.9Chr1146,010,19446,010,194+
nsv2781892Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000011.9Chr11628,154628,154+
nsv2781892Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000011.9Chr11628,154628,154+
nsv2781892Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000013.10Chr1371,736,08171,736,081+
nsv2781892Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000013.10Chr1371,736,08271,736,082+
nsv2781892Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000017.10Chr1718,161,15118,161,151+
nsv2781892Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000017.10Chr1718,161,15318,161,153+
nsv2781892Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000017.10Chr1736,205,41036,205,410+
nsv2781892Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000018.9Chr1811+
nsv2781892Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000018.9Chr1810,362,35010,362,350+
nsv2781892Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000018.9Chr1810,362,35010,362,350+
nsv2781892Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000021.8Chr2116,138,06216,138,062+
nsv2781892Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000021.8Chr2116,138,06416,138,064+
nsv2781892Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000021.8Chr2139,353,93139,353,931+
nsv2781892Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000021.8Chr2139,353,93139,353,931-

Variant Call Information

Variant Call IDTypeSample IDMethodAnalysisClinVar IDOther Calls in this Sample and Study
nssv13660272copy number lossDGAP316SequencingSplit read and paired-end mappingSCV0003208889
nssv13660269interchromosomal translocationDGAP316SequencingSplit read and paired-end mappingSCV0003208889
nssv13660271copy number lossDGAP316SequencingSplit read and paired-end mappingSCV0003208889
nssv13660268interchromosomal translocationDGAP316SequencingSplit read and paired-end mappingSCV0003208889
nssv13660264interchromosomal translocationDGAP316SequencingSplit read and paired-end mappingSCV0003208889
nssv13660270interchromosomal translocationDGAP316SequencingSplit read and paired-end mappingSCV0003208889
nssv13660265interchromosomal translocationDGAP316SequencingSplit read and paired-end mappingSCV0003208889
nssv13660266interchromosomal translocationDGAP316SequencingSplit read and paired-end mappingSCV0003208889
nssv13660267interchromosomal translocationDGAP316SequencingSplit read and paired-end mappingSCV0003208889

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrStartStopstrand
nssv13660269RemappedPerfectGRCh38.p12Second PassNT_187586.1Chr11|NT_1
87586.1		158,053158,053+
nssv13660271RemappedPerfectNT_187586.1:g.1580
53del		GRCh38.p12Second PassNT_187586.1Chr11|NT_1
87586.1		158,053158,053
nssv13660268RemappedPerfectGRCh38.p12First PassNC_000011.10Chr11196,401196,401-
nssv13660271RemappedPerfectNC_000011.10:g.196
401delNC_000011.10
:g.628154del		GRCh38.p12First PassNC_000011.10Chr11196,401196,401
nssv13660269RemappedPerfectGRCh38.p12First PassNC_000011.10Chr11628,154628,154+
nssv13660271RemappedPerfectNC_000011.10:g.196
401delNC_000011.10
:g.628154del		GRCh38.p12First PassNC_000011.10Chr11628,154628,154
nssv13660264RemappedPerfectGRCh38.p12First PassNC_000011.10Chr1145,988,64145,988,641+
nssv13660270RemappedPerfectGRCh38.p12First PassNC_000011.10Chr1145,988,64345,988,643+
nssv13660265RemappedPerfectGRCh38.p12First PassNC_000013.11Chr1371,161,94971,161,949+
nssv13660266RemappedPerfectGRCh38.p12First PassNC_000013.11Chr1371,161,95071,161,950+
nssv13660267RemappedPerfectGRCh38.p12Second PassNW_017363819.1Chr17|NW_0
17363819.1		18,21118,211+
nssv13660264RemappedPerfectGRCh38.p12Second PassNW_017363819.1Chr17|NW_0
17363819.1		18,21318,213+
nssv13660268RemappedPerfectGRCh38.p12First PassNT_187614.1Chr17|NT_1
87614.1		2,084,4752,084,475+
nssv13660267RemappedPerfectGRCh38.p12First PassNC_000017.11Chr1718,257,83718,257,837+
nssv13660264RemappedPerfectGRCh38.p12First PassNC_000017.11Chr1718,257,83918,257,839+
nssv13660268RemappedPerfectGRCh38.p12Second PassNC_000017.11Chr1737,845,78637,845,786+
nssv13660270RemappedPerfectGRCh38.p12First PassNC_000018.10Chr1810,362,35310,362,353+
nssv13660272RemappedPerfectNC_000018.10:g.103
62353del		GRCh38.p12First PassNC_000018.10Chr1810,362,35310,362,353
nssv13660265RemappedPerfectGRCh38.p12First PassNC_000021.9Chr2114,765,74114,765,741+
nssv13660267RemappedPerfectGRCh38.p12First PassNC_000021.9Chr2114,765,74314,765,743+
nssv13660266RemappedPerfectGRCh38.p12First PassNC_000021.9Chr2137,981,62937,981,629+
nssv13660269RemappedPerfectGRCh38.p12First PassNC_000021.9Chr2137,981,62937,981,629-
nssv13660268Submitted genomicGRCh37 (hg19)NC_000011.9Chr11196,401196,401-
nssv13660271Submitted genomic[NC_000011.9:g.196
401del];[NC_000011
.9:g.628154del]		GRCh37 (hg19)NC_000011.9Chr11196,401196,401
nssv13660269Submitted genomicGRCh37 (hg19)NC_000011.9Chr11628,154628,154+
nssv13660271Submitted genomic[NC_000011.9:g.196
401del];[NC_000011
.9:g.628154del]		GRCh37 (hg19)NC_000011.9Chr11628,154628,154
nssv13660264Submitted genomicGRCh37 (hg19)NC_000011.9Chr1146,010,19246,010,192+
nssv13660270Submitted genomicGRCh37 (hg19)NC_000011.9Chr1146,010,19446,010,194+
nssv13660265Submitted genomicGRCh37 (hg19)NC_000013.10Chr1371,736,08171,736,081+
nssv13660266Submitted genomicGRCh37 (hg19)NC_000013.10Chr1371,736,08271,736,082+
nssv13660267Submitted genomicGRCh37 (hg19)NC_000017.10Chr1718,161,15118,161,151+
nssv13660264Submitted genomicGRCh37 (hg19)NC_000017.10Chr1718,161,15318,161,153+
nssv13660268Submitted genomicGRCh37 (hg19)NC_000017.10Chr1736,205,41036,205,410+
nssv13660272Submitted genomic[NC_000018.9:g.1de
l];[NC_000018.9:g.
10362350del]		GRCh37 (hg19)NC_000018.9Chr1811
nssv13660270Submitted genomicGRCh37 (hg19)NC_000018.9Chr1810,362,35010,362,350+
nssv13660272Submitted genomic[NC_000018.9:g.1de
l];[NC_000018.9:g.
10362350del]		GRCh37 (hg19)NC_000018.9Chr1810,362,35010,362,350
nssv13660265Submitted genomicGRCh37 (hg19)NC_000021.8Chr2116,138,06216,138,062+
nssv13660267Submitted genomicGRCh37 (hg19)NC_000021.8Chr2116,138,06416,138,064+
nssv13660266Submitted genomicGRCh37 (hg19)NC_000021.8Chr2139,353,93139,353,931+
nssv13660269Submitted genomicGRCh37 (hg19)NC_000021.8Chr2139,353,93139,353,931-

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDSample IDHGVSTypeClinical InterpretationClinVar IDGenderOther Calls in this Sample and Study
nssv13660272DGAP316GRCh37: [NC_000018.9:g.1del];[NC_000018.9:g.10362350del]copy number lossSCV000320888Male9
nssv13660269DGAP316interchromosomal translocationSCV000320888Male9
nssv13660271DGAP316GRCh37: [NC_000011.9:g.196401del];[NC_000011.9:g.628154del]copy number lossSCV000320888Male9
nssv13660268DGAP316interchromosomal translocationSCV000320888Male9
nssv13660264DGAP316interchromosomal translocationSCV000320888Male9
nssv13660270DGAP316interchromosomal translocationSCV000320888Male9
nssv13660265DGAP316interchromosomal translocationSCV000320888Male9
nssv13660266DGAP316interchromosomal translocationSCV000320888Male9
nssv13660267DGAP316interchromosomal translocationSCV000320888Male9

No genotype data were submitted for this variant

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