A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1173894



Internal ID15508841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:54476971..54511498hg38UCSC Ensembl
Innerchr10:56236731..56271258hg19UCSC Ensembl
Innerchr10:55906737..55941264hg18UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3834528
hg1934528
hg1834528
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv550958
Supporting Variants
Samples1782681093_A
Known GenesPCDH15
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1173894
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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