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nsv2781789

  • 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: 200 SVs from 34 studies. See in: genome view    
Remapped(Score: Perfect):107,782,187-107,782,187Question Mark
Overlapping variant regions from other studies: 200 SVs from 34 studies. See in: genome view    
Remapped(Score: Perfect):107,782,187-107,782,187Question Mark
Overlapping variant regions from other studies: 137 SVs from 34 studies. See in: genome view    
Remapped(Score: Perfect):27,073,591-27,073,591Question Mark
Overlapping variant regions from other studies: 137 SVs from 34 studies. See in: genome view    
Remapped(Score: Perfect):27,073,591-27,073,591Question Mark
Overlapping variant regions from other studies: 109 SVs from 24 studies. See in: genome view    
Remapped(Score: Perfect):29,928,184-29,928,184Question Mark
Overlapping variant regions from other studies: 109 SVs from 24 studies. See in: genome view    
Remapped(Score: Perfect):29,928,184-29,928,184Question Mark
Overlapping variant regions from other studies: 200 SVs from 34 studies. See in: genome view    
Submitted genomic108,398,643-108,398,643Question Mark
Overlapping variant regions from other studies: 200 SVs from 34 studies. See in: genome view    
Submitted genomic108,398,643-108,398,643Question Mark
Overlapping variant regions from other studies: 137 SVs from 34 studies. See in: genome view    
Submitted genomic27,095,138-27,095,138Question Mark
Overlapping variant regions from other studies: 137 SVs from 34 studies. See in: genome view    
Submitted genomic27,095,138-27,095,138Question Mark
Overlapping variant regions from other studies: 109 SVs from 24 studies. See in: genome view    
Submitted genomic29,949,731-29,949,731Question Mark
Overlapping variant regions from other studies: 109 SVs from 24 studies. See in: genome view    
Submitted genomic29,949,731-29,949,731Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrStartStopstrand
nsv2781789RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000002.12Chr2107,782,187107,782,187+
nsv2781789RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000002.12Chr2107,782,187107,782,187-
nsv2781789RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000011.10Chr1127,073,59127,073,591+
nsv2781789RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000011.10Chr1127,073,59127,073,591-
nsv2781789RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000011.10Chr1129,928,18429,928,184+
nsv2781789RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000011.10Chr1129,928,18429,928,184+
nsv2781789Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000002.11Chr2108,398,643108,398,643+
nsv2781789Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000002.11Chr2108,398,643108,398,643-
nsv2781789Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000011.9Chr1127,095,13827,095,138+
nsv2781789Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000011.9Chr1127,095,13827,095,138-
nsv2781789Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000011.9Chr1129,949,73129,949,731+
nsv2781789Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000011.9Chr1129,949,73129,949,731+

Variant Call Information

Variant Call IDTypeSample IDMethodAnalysisClinVar IDOther Calls in this Sample and Study
nssv13659992interchromosomal translocationDGAP173SequencingSplit read and paired-end mappingSCV000320809nssv13659993, nssv13659994
nssv13659993interchromosomal translocationDGAP173SequencingSplit read and paired-end mappingSCV000320809nssv13659992, nssv13659994
nssv13659994copy number lossDGAP173SequencingSplit read and paired-end mappingSCV000320809nssv13659992, nssv13659993

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrStartStopstrand
nssv13659992RemappedPerfectGRCh38.p12First PassNC_000002.12Chr2107,782,187107,782,187+
nssv13659993RemappedPerfectGRCh38.p12First PassNC_000002.12Chr2107,782,187107,782,187-
nssv13659992RemappedPerfectGRCh38.p12First PassNC_000011.10Chr1127,073,59127,073,591-
nssv13659994RemappedPerfectNC_000011.10:g.270
73591delNC_000011.
10:g.29928184del		GRCh38.p12First PassNC_000011.10Chr1127,073,59127,073,591
nssv13659993RemappedPerfectGRCh38.p12First PassNC_000011.10Chr1129,928,18429,928,184+
nssv13659994RemappedPerfectNC_000011.10:g.270
73591delNC_000011.
10:g.29928184del		GRCh38.p12First PassNC_000011.10Chr1129,928,18429,928,184
nssv13659992Submitted genomicGRCh37 (hg19)NC_000002.11Chr2108,398,643108,398,643+
nssv13659993Submitted genomicGRCh37 (hg19)NC_000002.11Chr2108,398,643108,398,643-
nssv13659992Submitted genomicGRCh37 (hg19)NC_000011.9Chr1127,095,13827,095,138-
nssv13659994Submitted genomic[NC_000011.9:g.270
95138del];[NC_0000
11.9:g.29949731del
]		GRCh37 (hg19)NC_000011.9Chr1127,095,13827,095,138
nssv13659993Submitted genomicGRCh37 (hg19)NC_000011.9Chr1129,949,73129,949,731+
nssv13659994Submitted genomic[NC_000011.9:g.270
95138del];[NC_0000
11.9:g.29949731del
]		GRCh37 (hg19)NC_000011.9Chr1129,949,73129,949,731

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDSample IDHGVSTypeClinical InterpretationClinVar IDGenderOther Calls in this Sample and Study
nssv13659992DGAP173interchromosomal translocationSCV000320809Femalenssv13659993, nssv13659994
nssv13659993DGAP173interchromosomal translocationSCV000320809Femalenssv13659992, nssv13659994
nssv13659994DGAP173GRCh37: [NC_000011.9:g.27095138del];[NC_000011.9:g.29949731del]copy number lossSCV000320809Femalenssv13659992, nssv13659993

No genotype data were submitted for this variant

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