A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv693334



Internal ID15083300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:58319248..58335292hg38UCSC Ensembl
Innerchr17:56396609..56412653hg19UCSC Ensembl
Innerchr17:53751608..53767652hg18UCSC Ensembl
Innerchr17:53751608..53767652hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3816045
hg1916045
hg1816045
hg1716045
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
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv693334
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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