A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv680741



Internal ID15070707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:58305116..58373163hg38UCSC Ensembl
Innerchr17:56382477..56450524hg19UCSC Ensembl
Innerchr17:53737476..53805523hg18UCSC Ensembl
Innerchr17:53737476..53805523hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3868048
hg1968048
hg1868048
hg1768048
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)nssv680741
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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