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nsv2781843

  • Variant Calls:3
  • 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: 156 SVs from 32 studies. See in: genome view    
Remapped(Score: Perfect):45,068,695-45,068,695Question Mark
Overlapping variant regions from other studies: 156 SVs from 32 studies. See in: genome view    
Remapped(Score: Perfect):45,068,695-45,068,695Question Mark
Overlapping variant regions from other studies: 89 SVs from 17 studies. See in: genome view    
Remapped(Score: Perfect):69,602,146-69,602,146Question Mark
Overlapping variant regions from other studies: 89 SVs from 17 studies. See in: genome view    
Remapped(Score: Perfect):69,602,146-69,602,146Question Mark
Overlapping variant regions from other studies: 112 SVs from 24 studies. See in: genome view    
Remapped(Score: Perfect):147,996,707-147,996,707Question Mark
Overlapping variant regions from other studies: 112 SVs from 24 studies. See in: genome view    
Remapped(Score: Perfect):147,996,707-147,996,707Question Mark
Overlapping variant regions from other studies: 156 SVs from 32 studies. See in: genome view    
Submitted genomic45,295,834-45,295,834Question Mark
Overlapping variant regions from other studies: 156 SVs from 32 studies. See in: genome view    
Submitted genomic45,295,834-45,295,834Question Mark
Overlapping variant regions from other studies: 89 SVs from 17 studies. See in: genome view    
Submitted genomic69,829,278-69,829,278Question Mark
Overlapping variant regions from other studies: 89 SVs from 17 studies. See in: genome view    
Submitted genomic69,829,278-69,829,278Question Mark
Overlapping variant regions from other studies: 112 SVs from 24 studies. See in: genome view    
Submitted genomic147,714,494-147,714,494Question Mark
Overlapping variant regions from other studies: 112 SVs from 24 studies. See in: genome view    
Submitted genomic147,714,494-147,714,494Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrStartStopstrand
nsv2781843RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000002.12Chr245,068,69545,068,695+
nsv2781843RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000002.12Chr245,068,69545,068,695+
nsv2781843RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000002.12Chr269,602,14669,602,146+
nsv2781843RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000002.12Chr269,602,14669,602,146+
nsv2781843RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000003.12Chr3147,996,707147,996,707+
nsv2781843RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000003.12Chr3147,996,707147,996,707+
nsv2781843Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000002.11Chr245,295,83445,295,834+
nsv2781843Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000002.11Chr245,295,83445,295,834+
nsv2781843Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000002.11Chr269,829,27869,829,278+
nsv2781843Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000002.11Chr269,829,27869,829,278+
nsv2781843Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000003.11Chr3147,714,494147,714,494+
nsv2781843Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000003.11Chr3147,714,494147,714,494+

Variant Call Information

Variant Call IDTypeSample IDMethodAnalysisClinVar IDOther Calls in this Sample and Study
nssv13659719interchromosomal translocationDGAP018SequencingSplit read and paired-end mappingSCV000320751nssv13659720, nssv13659721
nssv13659721copy number gainDGAP018SequencingSplit read and paired-end mappingSCV000320751nssv13659719, nssv13659720
nssv13659720interchromosomal translocationDGAP018SequencingSplit read and paired-end mappingSCV000320751nssv13659719, nssv13659721

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrStartStopstrand
nssv13659719RemappedPerfectGRCh38.p12First PassNC_000002.12Chr245,068,69545,068,695+
nssv13659721RemappedPerfectNC_000002.12:g.450
68695dupNC_000002.
12:g.69602146dup		GRCh38.p12First PassNC_000002.12Chr245,068,69545,068,695
nssv13659720RemappedPerfectGRCh38.p12First PassNC_000002.12Chr269,602,14669,602,146+
nssv13659721RemappedPerfectNC_000002.12:g.450
68695dupNC_000002.
12:g.69602146dup		GRCh38.p12First PassNC_000002.12Chr269,602,14669,602,146
nssv13659719RemappedPerfectGRCh38.p12First PassNC_000003.12Chr3147,996,707147,996,707+
nssv13659720RemappedPerfectGRCh38.p12First PassNC_000003.12Chr3147,996,707147,996,707+
nssv13659719Submitted genomicGRCh37 (hg19)NC_000002.11Chr245,295,83445,295,834+
nssv13659721Submitted genomic[NC_000002.11:g.45
295834dup];[NC_000
002.11:g.69829278d
up]		GRCh37 (hg19)NC_000002.11Chr245,295,83445,295,834
nssv13659720Submitted genomicGRCh37 (hg19)NC_000002.11Chr269,829,27869,829,278+
nssv13659721Submitted genomic[NC_000002.11:g.45
295834dup];[NC_000
002.11:g.69829278d
up]		GRCh37 (hg19)NC_000002.11Chr269,829,27869,829,278
nssv13659719Submitted genomicGRCh37 (hg19)NC_000003.11Chr3147,714,494147,714,494+
nssv13659720Submitted genomicGRCh37 (hg19)NC_000003.11Chr3147,714,494147,714,494+

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDSample IDHGVSTypeClinical InterpretationClinVar IDGenderOther Calls in this Sample and Study
nssv13659719DGAP018interchromosomal translocationSCV000320751Femalenssv13659720, nssv13659721
nssv13659721DGAP018GRCh37: [NC_000002.11:g.45295834dup];[NC_000002.11:g.69829278dup]copy number gainSCV000320751Femalenssv13659719, nssv13659720
nssv13659720DGAP018interchromosomal translocationSCV000320751Femalenssv13659719, nssv13659721

No genotype data were submitted for this variant

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