U.S. flag

An official website of the United States government

nsv2781893

  • Variant Calls:6
  • 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: 211 SVs from 42 studies. See in: genome view    
Remapped(Score: Perfect):78,191,442-78,191,442Question Mark
Overlapping variant regions from other studies: 211 SVs from 42 studies. See in: genome view    
Remapped(Score: Perfect):78,191,442-78,191,442Question Mark
Overlapping variant regions from other studies: 142 SVs from 30 studies. See in: genome view    
Remapped(Score: Perfect):79,635,516-79,635,516Question Mark
Overlapping variant regions from other studies: 142 SVs from 30 studies. See in: genome view    
Remapped(Score: Perfect):79,635,516-79,635,516Question Mark
Overlapping variant regions from other studies: 119 SVs from 22 studies. See in: genome view    
Remapped(Score: Perfect):80,310,939-80,310,939Question Mark
Overlapping variant regions from other studies: 119 SVs from 22 studies. See in: genome view    
Remapped(Score: Perfect):80,311,622-80,311,622Question Mark
Overlapping variant regions from other studies: 134 SVs from 29 studies. See in: genome view    
Remapped(Score: Perfect):8,069,971-8,069,971Question Mark
Overlapping variant regions from other studies: 133 SVs from 29 studies. See in: genome view    
Remapped(Score: Perfect):8,070,845-8,070,845Question Mark
Overlapping variant regions from other studies: 103 SVs from 17 studies. See in: genome view    
Remapped(Score: Perfect):81,578,964-81,578,964Question Mark
Overlapping variant regions from other studies: 103 SVs from 17 studies. See in: genome view    
Remapped(Score: Perfect):81,578,964-81,578,964Question Mark
Overlapping variant regions from other studies: 138 SVs from 27 studies. See in: genome view    
Remapped(Score: Perfect):85,971,797-85,971,797Question Mark
Overlapping variant regions from other studies: 138 SVs from 27 studies. See in: genome view    
Remapped(Score: Perfect):85,971,797-85,971,797Question Mark
Overlapping variant regions from other studies: 211 SVs from 42 studies. See in: genome view    
Submitted genomic78,901,159-78,901,159Question Mark
Overlapping variant regions from other studies: 211 SVs from 42 studies. See in: genome view    
Submitted genomic78,901,159-78,901,159Question Mark
Overlapping variant regions from other studies: 142 SVs from 30 studies. See in: genome view    
Submitted genomic80,345,233-80,345,233Question Mark
Overlapping variant regions from other studies: 142 SVs from 30 studies. See in: genome view    
Submitted genomic80,345,233-80,345,233Question Mark
Overlapping variant regions from other studies: 134 SVs from 29 studies. See in: genome view    
Submitted genomic8,070,204-8,070,204Question Mark
Overlapping variant regions from other studies: 133 SVs from 29 studies. See in: genome view    
Submitted genomic8,071,078-8,071,078Question Mark
Overlapping variant regions from other studies: 119 SVs from 22 studies. See in: genome view    
Submitted genomic81,020,656-81,020,656Question Mark
Overlapping variant regions from other studies: 119 SVs from 22 studies. See in: genome view    
Submitted genomic81,021,339-81,021,339Question Mark
Overlapping variant regions from other studies: 103 SVs from 17 studies. See in: genome view    
Submitted genomic82,288,681-82,288,681Question Mark
Overlapping variant regions from other studies: 103 SVs from 17 studies. See in: genome view    
Submitted genomic82,288,681-82,288,681Question Mark
Overlapping variant regions from other studies: 138 SVs from 27 studies. See in: genome view    
Submitted genomic86,681,515-86,681,515Question Mark
Overlapping variant regions from other studies: 138 SVs from 27 studies. See in: genome view    
Submitted genomic86,681,515-86,681,515Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrStartStopstrand
nsv2781893RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr678,191,44278,191,442+
nsv2781893RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr678,191,44278,191,442+
nsv2781893RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr679,635,51679,635,516+
nsv2781893RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr679,635,51679,635,516+
nsv2781893RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr680,310,93980,310,939+
nsv2781893RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr680,311,62280,311,622+
nsv2781893RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr68,069,9718,069,971-
nsv2781893RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr68,070,8458,070,845+
nsv2781893RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr681,578,96481,578,964+
nsv2781893RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr681,578,96481,578,964+
nsv2781893RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr685,971,79785,971,797+
nsv2781893RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr685,971,79785,971,797-
nsv2781893Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr678,901,15978,901,159+
nsv2781893Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr678,901,15978,901,159+
nsv2781893Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr680,345,23380,345,233+
nsv2781893Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr680,345,23380,345,233+
nsv2781893Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr68,070,2048,070,204-
nsv2781893Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr68,071,0788,071,078+
nsv2781893Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr681,020,65681,020,656+
nsv2781893Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr681,021,33981,021,339+
nsv2781893Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr682,288,68182,288,681+
nsv2781893Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr682,288,68182,288,681+
nsv2781893Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr686,681,51586,681,515+
nsv2781893Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr686,681,51586,681,515-

Variant Call Information

Variant Call IDTypeSample IDMethodAnalysisClinVar IDOther Calls in this Sample and Study
nssv13660179intrachromosomal translocationDGAP317SequencingSplit read and paired-end mappingSCV0003208896
nssv13660275intrachromosomal translocationDGAP317SequencingSplit read and paired-end mappingSCV0003208896
nssv13660180copy number lossDGAP317SequencingSplit read and paired-end mappingSCV0003208896
nssv13660274intrachromosomal translocationDGAP317SequencingSplit read and paired-end mappingSCV0003208896
nssv13660273intrachromosomal translocationDGAP317SequencingSplit read and paired-end mappingSCV0003208896
nssv13659869copy number lossDGAP317SequencingSplit read and paired-end mappingSCV0003208896

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrStartStopstrand
nssv13660179RemappedPerfectGRCh38.p12First PassNC_000006.12Chr68,069,9718,069,971-
nssv13660275RemappedPerfectGRCh38.p12First PassNC_000006.12Chr68,070,8458,070,845+
nssv13660179RemappedPerfectGRCh38.p12First PassNC_000006.12Chr678,191,44278,191,442+
nssv13660180RemappedPerfectNC_000006.12:g.781
91442delNC_000006.
12:g.79635516del		GRCh38.p12First PassNC_000006.12Chr678,191,44278,191,442
nssv13660180RemappedPerfectNC_000006.12:g.781
91442delNC_000006.
12:g.79635516del		GRCh38.p12First PassNC_000006.12Chr679,635,51679,635,516
nssv13660274RemappedPerfectGRCh38.p12First PassNC_000006.12Chr679,635,51679,635,516+
nssv13660275RemappedPerfectGRCh38.p12First PassNC_000006.12Chr680,310,93980,310,939+
nssv13660273RemappedPerfectGRCh38.p12First PassNC_000006.12Chr680,311,62280,311,622+
nssv13659869RemappedPerfectNC_000006.12:g.815
78964delNC_000006.
12:g.85971797del		GRCh38.p12First PassNC_000006.12Chr681,578,96481,578,964
nssv13660274RemappedPerfectGRCh38.p12First PassNC_000006.12Chr681,578,96481,578,964+
nssv13659869RemappedPerfectNC_000006.12:g.815
78964delNC_000006.
12:g.85971797del		GRCh38.p12First PassNC_000006.12Chr685,971,79785,971,797
nssv13660273RemappedPerfectGRCh38.p12First PassNC_000006.12Chr685,971,79785,971,797-
nssv13660179Submitted genomicGRCh37 (hg19)NC_000006.11Chr68,070,2048,070,204-
nssv13660275Submitted genomicGRCh37 (hg19)NC_000006.11Chr68,071,0788,071,078+
nssv13660179Submitted genomicGRCh37 (hg19)NC_000006.11Chr678,901,15978,901,159+
nssv13660180Submitted genomic[NC_000006.11:g.78
901159del];[NC_000
006.11:g.80345233d
el]		GRCh37 (hg19)NC_000006.11Chr678,901,15978,901,159
nssv13660180Submitted genomic[NC_000006.11:g.78
901159del];[NC_000
006.11:g.80345233d
el]		GRCh37 (hg19)NC_000006.11Chr680,345,23380,345,233
nssv13660274Submitted genomicGRCh37 (hg19)NC_000006.11Chr680,345,23380,345,233+
nssv13660275Submitted genomicGRCh37 (hg19)NC_000006.11Chr681,020,65681,020,656+
nssv13660273Submitted genomicGRCh37 (hg19)NC_000006.11Chr681,021,33981,021,339+
nssv13659869Submitted genomic[NC_000006.11:g.82
288681del];[NC_000
006.11:g.86681515d
el]		GRCh37 (hg19)NC_000006.11Chr682,288,68182,288,681
nssv13660274Submitted genomicGRCh37 (hg19)NC_000006.11Chr682,288,68182,288,681+
nssv13659869Submitted genomic[NC_000006.11:g.82
288681del];[NC_000
006.11:g.86681515d
el]		GRCh37 (hg19)NC_000006.11Chr686,681,51586,681,515
nssv13660273Submitted genomicGRCh37 (hg19)NC_000006.11Chr686,681,51586,681,515-

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDSample IDHGVSTypeClinical InterpretationClinVar IDGenderOther Calls in this Sample and Study
nssv13660179DGAP317intrachromosomal translocationSCV000320889Male6
nssv13660275DGAP317intrachromosomal translocationSCV000320889Male6
nssv13660180DGAP317GRCh37: [NC_000006.11:g.78901159del];[NC_000006.11:g.80345233del]copy number lossSCV000320889Male6
nssv13660274DGAP317intrachromosomal translocationSCV000320889Male6
nssv13660273DGAP317intrachromosomal translocationSCV000320889Male6
nssv13659869DGAP317GRCh37: [NC_000006.11:g.82288681del];[NC_000006.11:g.86681515del]copy number lossSCV000320889Male6

No genotype data were submitted for this variant

You are here: NCBI
Support Center