A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701916



Internal ID15438568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:73481172..73486440hg38UCSC Ensembl
Innerchr3:73530323..73535591hg19UCSC Ensembl
Innerchr3:73613013..73618281hg18UCSC Ensembl
Innerchr3:73613013..73618281hg17UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg385269
hg195269
hg185269
hg175269
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525749
Supporting Variants
Samples
Known GenesPDZRN3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701916
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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