A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523051



Internal ID15450344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:110298968..110314002hg38UCSC Ensembl
Innerchr13:110951315..110966349hg19UCSC Ensembl
Innerchr13:109749316..109764350hg18UCSC Ensembl
Innerchr13:109749316..109764350hg17UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3815035
hg1915035
hg1815035
hg1715035
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698734
Samples
Known GenesCOL4A1, COL4A2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523051
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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