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nsv2781785

  • Variant Calls:5
  • 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: 80 SVs from 15 studies. See in: genome view    
Remapped(Score: Perfect):153,972,325-153,972,325Question Mark
Overlapping variant regions from other studies: 80 SVs from 15 studies. See in: genome view    
Remapped(Score: Perfect):153,972,325-153,972,325Question Mark
Overlapping variant regions from other studies: 78 SVs from 15 studies. See in: genome view    
Remapped(Score: Perfect):154,472,737-154,472,737Question Mark
Overlapping variant regions from other studies: 78 SVs from 15 studies. See in: genome view    
Remapped(Score: Perfect):154,472,737-154,472,737Question Mark
Overlapping variant regions from other studies: 129 SVs from 21 studies. See in: genome view    
Remapped(Score: Perfect):93,280,691-93,280,691Question Mark
Overlapping variant regions from other studies: 129 SVs from 21 studies. See in: genome view    
Remapped(Score: Perfect):93,280,691-93,280,691Question Mark
Overlapping variant regions from other studies: 128 SVs from 18 studies. See in: genome view    
Remapped(Score: Perfect):93,691,259-93,691,259Question Mark
Overlapping variant regions from other studies: 128 SVs from 18 studies. See in: genome view    
Remapped(Score: Perfect):93,691,259-93,691,259Question Mark
Overlapping variant regions from other studies: 139 SVs from 22 studies. See in: genome view    
Remapped(Score: Perfect):93,922,357-93,922,357Question Mark
Overlapping variant regions from other studies: 139 SVs from 22 studies. See in: genome view    
Remapped(Score: Perfect):93,922,361-93,922,361Question Mark
Overlapping variant regions from other studies: 80 SVs from 15 studies. See in: genome view    
Submitted genomic153,351,885-153,351,885Question Mark
Overlapping variant regions from other studies: 80 SVs from 15 studies. See in: genome view    
Submitted genomic153,351,885-153,351,885Question Mark
Overlapping variant regions from other studies: 78 SVs from 15 studies. See in: genome view    
Submitted genomic153,852,297-153,852,297Question Mark
Overlapping variant regions from other studies: 78 SVs from 15 studies. See in: genome view    
Submitted genomic153,852,297-153,852,297Question Mark
Overlapping variant regions from other studies: 129 SVs from 21 studies. See in: genome view    
Submitted genomic92,616,397-92,616,397Question Mark
Overlapping variant regions from other studies: 129 SVs from 21 studies. See in: genome view    
Submitted genomic92,616,397-92,616,397Question Mark
Overlapping variant regions from other studies: 128 SVs from 18 studies. See in: genome view    
Submitted genomic93,026,965-93,026,965Question Mark
Overlapping variant regions from other studies: 128 SVs from 18 studies. See in: genome view    
Submitted genomic93,026,965-93,026,965Question Mark
Overlapping variant regions from other studies: 139 SVs from 22 studies. See in: genome view    
Submitted genomic93,258,062-93,258,062Question Mark
Overlapping variant regions from other studies: 139 SVs from 22 studies. See in: genome view    
Submitted genomic93,258,066-93,258,066Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrStartStopstrand
nsv2781785RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000005.10Chr5153,972,325153,972,325+
nsv2781785RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000005.10Chr5153,972,325153,972,325-
nsv2781785RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000005.10Chr5154,472,737154,472,737+
nsv2781785RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000005.10Chr5154,472,737154,472,737+
nsv2781785RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000005.10Chr593,280,69193,280,691+
nsv2781785RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000005.10Chr593,280,69193,280,691+
nsv2781785RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000005.10Chr593,691,25993,691,259+
nsv2781785RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000005.10Chr593,691,25993,691,259-
nsv2781785RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000005.10Chr593,922,35793,922,357-
nsv2781785RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000005.10Chr593,922,36193,922,361-
nsv2781785Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000005.9Chr5153,351,885153,351,885+
nsv2781785Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000005.9Chr5153,351,885153,351,885-
nsv2781785Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000005.9Chr5153,852,297153,852,297+
nsv2781785Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000005.9Chr5153,852,297153,852,297+
nsv2781785Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000005.9Chr592,616,39792,616,397+
nsv2781785Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000005.9Chr592,616,39792,616,397+
nsv2781785Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000005.9Chr593,026,96593,026,965+
nsv2781785Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000005.9Chr593,026,96593,026,965-
nsv2781785Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000005.9Chr593,258,06293,258,062-
nsv2781785Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000005.9Chr593,258,06693,258,066-

Variant Call Information

Variant Call IDTypeSample IDMethodAnalysisClinVar IDOther Calls in this Sample and Study
nssv13659981intrachromosomal translocationDGAP169SequencingSplit read and paired-end mappingSCV0003208055
nssv13659983copy number lossDGAP169SequencingSplit read and paired-end mappingSCV0003208055
nssv13659943intrachromosomal translocationDGAP169SequencingSplit read and paired-end mappingSCV0003208055
nssv13659982intrachromosomal translocationDGAP169SequencingSplit read and paired-end mappingSCV0003208055
nssv13659984copy number lossDGAP169SequencingSplit read and paired-end mappingSCV0003208055

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrStartStopstrand
nssv13659981RemappedPerfectGRCh38.p12First PassNC_000005.10Chr593,280,69193,280,691+
nssv13659983RemappedPerfectNC_000005.10:g.932
80691delNC_000005.
10:g.93691259del		GRCh38.p12First PassNC_000005.10Chr593,280,69193,280,691
nssv13659943RemappedPerfectGRCh38.p12First PassNC_000005.10Chr593,691,25993,691,259-
nssv13659983RemappedPerfectNC_000005.10:g.932
80691delNC_000005.
10:g.93691259del		GRCh38.p12First PassNC_000005.10Chr593,691,25993,691,259
nssv13659982RemappedPerfectGRCh38.p12First PassNC_000005.10Chr593,922,35793,922,357-
nssv13659981RemappedPerfectGRCh38.p12First PassNC_000005.10Chr593,922,36193,922,361-
nssv13659943RemappedPerfectGRCh38.p12First PassNC_000005.10Chr5153,972,325153,972,325-
nssv13659984RemappedPerfectNC_000005.10:g.153
972325delNC_000005
.10:g.154472737del		GRCh38.p12First PassNC_000005.10Chr5153,972,325153,972,325
nssv13659982RemappedPerfectGRCh38.p12First PassNC_000005.10Chr5154,472,737154,472,737+
nssv13659984RemappedPerfectNC_000005.10:g.153
972325delNC_000005
.10:g.154472737del		GRCh38.p12First PassNC_000005.10Chr5154,472,737154,472,737
nssv13659981Submitted genomicGRCh37 (hg19)NC_000005.9Chr592,616,39792,616,397+
nssv13659983Submitted genomic[NC_000005.9:g.926
16397del];[NC_0000
05.9:g.93026965del
]		GRCh37 (hg19)NC_000005.9Chr592,616,39792,616,397
nssv13659943Submitted genomicGRCh37 (hg19)NC_000005.9Chr593,026,96593,026,965-
nssv13659983Submitted genomic[NC_000005.9:g.926
16397del];[NC_0000
05.9:g.93026965del
]		GRCh37 (hg19)NC_000005.9Chr593,026,96593,026,965
nssv13659982Submitted genomicGRCh37 (hg19)NC_000005.9Chr593,258,06293,258,062-
nssv13659981Submitted genomicGRCh37 (hg19)NC_000005.9Chr593,258,06693,258,066-
nssv13659943Submitted genomicGRCh37 (hg19)NC_000005.9Chr5153,351,885153,351,885-
nssv13659984Submitted genomic[NC_000005.9:g.153
351885del];[NC_000
005.9:g.153852297d
el]		GRCh37 (hg19)NC_000005.9Chr5153,351,885153,351,885
nssv13659982Submitted genomicGRCh37 (hg19)NC_000005.9Chr5153,852,297153,852,297+
nssv13659984Submitted genomic[NC_000005.9:g.153
351885del];[NC_000
005.9:g.153852297d
el]		GRCh37 (hg19)NC_000005.9Chr5153,852,297153,852,297

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDSample IDHGVSTypeClinical InterpretationClinVar IDGenderOther Calls in this Sample and Study
nssv13659981DGAP169intrachromosomal translocationSCV000320805Female5
nssv13659983DGAP169GRCh37: [NC_000005.9:g.92616397del];[NC_000005.9:g.93026965del]copy number lossSCV000320805Female5
nssv13659943DGAP169intrachromosomal translocationSCV000320805Female5
nssv13659982DGAP169intrachromosomal translocationSCV000320805Female5
nssv13659984DGAP169GRCh37: [NC_000005.9:g.153351885del];[NC_000005.9:g.153852297del]copy number lossSCV000320805Female5

No genotype data were submitted for this variant

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