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nsv6112787

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:220,029
  • Description:GRCh37/hg19 22q11.1(chr22:17443623-17663651)x1 AND not provided

Genome View

Select assembly:
Overlapping variant regions from other studies: 769 SVs from 69 studies. See in: genome view    
Remapped(Score: Perfect):16,962,733-17,182,761Question Mark
Overlapping variant regions from other studies: 773 SVs from 69 studies. See in: genome view    
Submitted genomic17,443,623-17,663,651Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv6112787RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000022.11Chr2216,962,73317,182,761
nsv6112787Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000022.10Chr2217,443,62317,663,651

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv17649894copy number lossMultipleMultiplenot providedUncertain significanceClinVarRCV001531383.9, VCV001176014.101

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv17649894RemappedPerfectNC_000022.11:g.(?_
16962733)_(1718276
1_?)del
GRCh38.p12First PassNC_000022.11Chr2216,962,73317,182,761
nssv17649894Submitted genomicNC_000022.10:g.(?_
17443623)_(1766365
1_?)del
GRCh37 (hg19)NC_000022.10Chr2217,443,62317,663,651

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv17649894GRCh37: NC_000022.10:g.(?_17443623)_(17663651_?)delcopy number lossgermlinenot providedUncertain significanceClinVarRCV001531383.9, VCV001176014.101

No genotype data were submitted for this variant

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