A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705043



Internal ID15441695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:52246161..53040813hg38UCSC Ensembl
Innerchr17:50323521..51118173hg19UCSC Ensembl
Innerchr17:47678520..48473172hg18UCSC Ensembl
Innerchr17:47678520..48473172hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38794653
hg19794653
hg18794653
hg17794653
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528447
Supporting Variants
Samples
Known GenesC17orf112
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705043
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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