A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv685731



Internal ID15075697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:58305116..58366184hg38UCSC Ensembl
Innerchr17:56382477..56443545hg19UCSC Ensembl
Innerchr17:53737476..53798544hg18UCSC Ensembl
Innerchr17:53737476..53798544hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3861069
hg1961069
hg1861069
hg1761069
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517229
Supporting Variants
Samples
Known GenesBZRAP1, BZRAP1-AS1, MIR142, MIR4736, RNF43, SUPT4H1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv685731
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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