A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv674773



Internal ID15064739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:58305692..58347349hg38UCSC Ensembl
Innerchr17:56383053..56424710hg19UCSC Ensembl
Innerchr17:53738052..53779709hg18UCSC Ensembl
Innerchr17:53738052..53779709hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3841658
hg1941658
hg1841658
hg1741658
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, SUPT4H1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv674773
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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