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nsv2781885

  • 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: 93 SVs from 20 studies. See in: genome view    
Remapped(Score: Perfect):146,677,378-146,677,378Question Mark
Overlapping variant regions from other studies: 93 SVs from 20 studies. See in: genome view    
Remapped(Score: Perfect):146,677,398-146,677,398Question Mark
Overlapping variant regions from other studies: 126 SVs from 27 studies. See in: genome view    
Remapped(Score: Perfect):97,248,538-97,248,538Question Mark
Overlapping variant regions from other studies: 126 SVs from 27 studies. See in: genome view    
Remapped(Score: Perfect):97,248,538-97,248,538Question Mark
Overlapping variant regions from other studies: 134 SVs from 24 studies. See in: genome view    
Remapped(Score: Perfect):98,701,197-98,701,197Question Mark
Overlapping variant regions from other studies: 134 SVs from 24 studies. See in: genome view    
Remapped(Score: Perfect):98,701,197-98,701,197Question Mark
Overlapping variant regions from other studies: 93 SVs from 20 studies. See in: genome view    
Submitted genomic146,998,514-146,998,514Question Mark
Overlapping variant regions from other studies: 93 SVs from 20 studies. See in: genome view    
Submitted genomic146,998,534-146,998,534Question Mark
Overlapping variant regions from other studies: 126 SVs from 27 studies. See in: genome view    
Submitted genomic97,119,538-97,119,538Question Mark
Overlapping variant regions from other studies: 126 SVs from 27 studies. See in: genome view    
Submitted genomic97,119,538-97,119,538Question Mark
Overlapping variant regions from other studies: 134 SVs from 24 studies. See in: genome view    
Submitted genomic98,571,927-98,571,927Question Mark
Overlapping variant regions from other studies: 134 SVs from 24 studies. See in: genome view    
Submitted genomic98,571,927-98,571,927Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrStartStopstrand
nsv2781885RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr6146,677,378146,677,378+
nsv2781885RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr6146,677,398146,677,398+
nsv2781885RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000011.10Chr1197,248,53897,248,538+
nsv2781885RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000011.10Chr1197,248,53897,248,538+
nsv2781885RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000011.10Chr1198,701,19798,701,197+
nsv2781885RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000011.10Chr1198,701,19798,701,197+
nsv2781885Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr6146,998,514146,998,514+
nsv2781885Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr6146,998,534146,998,534+
nsv2781885Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000011.9Chr1197,119,53897,119,538+
nsv2781885Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000011.9Chr1197,119,53897,119,538+
nsv2781885Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000011.9Chr1198,571,92798,571,927+
nsv2781885Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000011.9Chr1198,571,92798,571,927+

Variant Call Information

Variant Call IDTypeSample IDMethodAnalysisClinVar IDOther Calls in this Sample and Study
nssv13659797interchromosomal translocationDGAP120SequencingSplit read mappingSCV000320771nssv13659790, nssv13659789
nssv13659789interchromosomal translocationDGAP120SequencingSplit read mappingSCV000320771nssv13659797, nssv13659790
nssv13659790copy number lossDGAP120SequencingSplit read mappingSCV000320771nssv13659797, nssv13659789

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrStartStopstrand
nssv13659797RemappedPerfectGRCh38.p12First PassNC_000006.12Chr6146,677,378146,677,378+
nssv13659789RemappedPerfectGRCh38.p12First PassNC_000006.12Chr6146,677,398146,677,398+
nssv13659789RemappedPerfectGRCh38.p12First PassNC_000011.10Chr1197,248,53897,248,538+
nssv13659790RemappedPerfectNC_000011.10:g.972
48538delNC_000011.
10:g.98701197del		GRCh38.p12First PassNC_000011.10Chr1197,248,53897,248,538
nssv13659790RemappedPerfectNC_000011.10:g.972
48538delNC_000011.
10:g.98701197del		GRCh38.p12First PassNC_000011.10Chr1198,701,19798,701,197
nssv13659797RemappedPerfectGRCh38.p12First PassNC_000011.10Chr1198,701,19798,701,197+
nssv13659797Submitted genomicGRCh37 (hg19)NC_000006.11Chr6146,998,514146,998,514+
nssv13659789Submitted genomicGRCh37 (hg19)NC_000006.11Chr6146,998,534146,998,534+
nssv13659789Submitted genomicGRCh37 (hg19)NC_000011.9Chr1197,119,53897,119,538+
nssv13659790Submitted genomic[NC_000011.9:g.971
19538del];[NC_0000
11.9:g.98571927del
]		GRCh37 (hg19)NC_000011.9Chr1197,119,53897,119,538
nssv13659790Submitted genomic[NC_000011.9:g.971
19538del];[NC_0000
11.9:g.98571927del
]		GRCh37 (hg19)NC_000011.9Chr1198,571,92798,571,927
nssv13659797Submitted genomicGRCh37 (hg19)NC_000011.9Chr1198,571,92798,571,927+

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDSample IDHGVSTypeClinical InterpretationClinVar IDGenderOther Calls in this Sample and Study
nssv13659797DGAP120interchromosomal translocationSCV000320771Malenssv13659790, nssv13659789
nssv13659789DGAP120interchromosomal translocationSCV000320771Malenssv13659797, nssv13659790
nssv13659790DGAP120GRCh37: [NC_000011.9:g.97119538del];[NC_000011.9:g.98571927del]copy number lossSCV000320771Malenssv13659797, nssv13659789

No genotype data were submitted for this variant

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