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nsv2781803

  • Variant Calls:3
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:1

Links to Other Resources

Genome View

Select assembly:
Overlapping variant regions from other studies: 117 SVs from 23 studies. See in: genome view    
Remapped(Score: Perfect):11,369,949-11,369,949Question Mark
Overlapping variant regions from other studies: 117 SVs from 23 studies. See in: genome view    
Remapped(Score: Perfect):11,369,949-11,369,949Question Mark
Overlapping variant regions from other studies: 85 SVs from 18 studies. See in: genome view    
Remapped(Score: Perfect):14,708,352-14,708,352Question Mark
Overlapping variant regions from other studies: 85 SVs from 18 studies. See in: genome view    
Remapped(Score: Perfect):14,708,352-14,708,352Question Mark
Overlapping variant regions from other studies: 293 SVs from 44 studies. See in: genome view    
Remapped(Score: Perfect):43,462,272-43,462,272Question Mark
Overlapping variant regions from other studies: 293 SVs from 44 studies. See in: genome view    
Remapped(Score: Perfect):43,462,272-43,462,272Question Mark
Overlapping variant regions from other studies: 117 SVs from 23 studies. See in: genome view    
Submitted genomic11,411,948-11,411,948Question Mark
Overlapping variant regions from other studies: 117 SVs from 23 studies. See in: genome view    
Submitted genomic11,411,948-11,411,948Question Mark
Overlapping variant regions from other studies: 85 SVs from 18 studies. See in: genome view    
Submitted genomic14,750,351-14,750,351Question Mark
Overlapping variant regions from other studies: 85 SVs from 18 studies. See in: genome view    
Submitted genomic14,750,351-14,750,351Question Mark
Overlapping variant regions from other studies: 293 SVs from 44 studies. See in: genome view    
Submitted genomic43,931,475-43,931,475Question Mark
Overlapping variant regions from other studies: 293 SVs from 44 studies. See in: genome view    
Submitted genomic43,931,475-43,931,475Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrStartStopstrand
nsv2781803RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000010.11Chr1011,369,94911,369,949+
nsv2781803RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000010.11Chr1011,369,94911,369,949-
nsv2781803RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000010.11Chr1014,708,35214,708,352+
nsv2781803RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000010.11Chr1014,708,35214,708,352+
nsv2781803RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000014.9Chr1443,462,27243,462,272+
nsv2781803RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000014.9Chr1443,462,27243,462,272-
nsv2781803Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000010.10Chr1011,411,94811,411,948+
nsv2781803Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000010.10Chr1011,411,94811,411,948-
nsv2781803Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000010.10Chr1014,750,35114,750,351+
nsv2781803Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000010.10Chr1014,750,35114,750,351+
nsv2781803Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000014.8Chr1443,931,47543,931,475+
nsv2781803Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000014.8Chr1443,931,47543,931,475-

Variant Call Information

Variant Call IDTypeSample IDMethodAnalysisClinVar IDOther Calls in this Sample and Study
nssv13659975interchromosomal translocationDGAP195SequencingSplit read and paired-end mappingSCV000320823nssv13660028, nssv13660029
nssv13660029copy number lossDGAP195SequencingSplit read and paired-end mappingSCV000320823nssv13659975, nssv13660028
nssv13660028interchromosomal translocationDGAP195SequencingSplit read and paired-end mappingSCV000320823nssv13659975, nssv13660029

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrStartStopstrand
nssv13659975RemappedPerfectGRCh38.p12First PassNC_000010.11Chr1011,369,94911,369,949-
nssv13660029RemappedPerfectNC_000010.11:g.113
69949delNC_000010.
11:g.14708352del
GRCh38.p12First PassNC_000010.11Chr1011,369,94911,369,949
nssv13660028RemappedPerfectGRCh38.p12First PassNC_000010.11Chr1014,708,35214,708,352+
nssv13660029RemappedPerfectNC_000010.11:g.113
69949delNC_000010.
11:g.14708352del
GRCh38.p12First PassNC_000010.11Chr1014,708,35214,708,352
nssv13659975RemappedPerfectGRCh38.p12First PassNC_000014.9Chr1443,462,27243,462,272+
nssv13660028RemappedPerfectGRCh38.p12First PassNC_000014.9Chr1443,462,27243,462,272-
nssv13659975Submitted genomicGRCh37 (hg19)NC_000010.10Chr1011,411,94811,411,948-
nssv13660029Submitted genomic[NC_000010.10:g.11
411948del];[NC_000
010.10:g.14750351d
el]
GRCh37 (hg19)NC_000010.10Chr1011,411,94811,411,948
nssv13660028Submitted genomicGRCh37 (hg19)NC_000010.10Chr1014,750,35114,750,351+
nssv13660029Submitted genomic[NC_000010.10:g.11
411948del];[NC_000
010.10:g.14750351d
el]
GRCh37 (hg19)NC_000010.10Chr1014,750,35114,750,351
nssv13659975Submitted genomicGRCh37 (hg19)NC_000014.8Chr1443,931,47543,931,475+
nssv13660028Submitted genomicGRCh37 (hg19)NC_000014.8Chr1443,931,47543,931,475-

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDSample IDHGVSTypeClinical InterpretationClinVar IDGenderOther Calls in this Sample and Study
nssv13659975DGAP195interchromosomal translocationSCV000320823Femalenssv13660028, nssv13660029
nssv13660029DGAP195GRCh37: [NC_000010.10:g.11411948del];[NC_000010.10:g.14750351del]copy number lossSCV000320823Femalenssv13659975, nssv13660028
nssv13660028DGAP195interchromosomal translocationSCV000320823Femalenssv13659975, nssv13660029

No genotype data were submitted for this variant

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