A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694672



Internal ID15431324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:110243648..110245097hg38UCSC Ensembl
Innerchr13:110895995..110897444hg19UCSC Ensembl
Innerchr13:109693996..109695445hg18UCSC Ensembl
Innerchr13:109693996..109695445hg17UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381450
hg191450
hg181450
hg171450
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521901
Supporting Variants
Samples
Known GenesCOL4A1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694672
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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