A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705372



Internal ID15095338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:19639200..19890048hg38UCSC Ensembl
Innerchr13:20213340..20464188hg19UCSC Ensembl
Innerchr13:19111340..19362188hg18UCSC Ensembl
Innerchr13:19111340..19362188hg17UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38250849
hg19250849
hg18250849
hg17250849
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516945
Supporting Variants
Samples
Known GenesMPHOSPH8, PSPC1, ZMYM5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705372
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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