A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3567713



Internal ID18519308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:59158105..59549885hg38UCSC Ensembl
Innerchr17:57235466..57627246hg19UCSC Ensembl
Innerchr17:54590248..54982028hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38391781
hg19391781
hg18391781
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1057152
Supporting Variants
Samples
Known GenesGDPD1, MIR4729, PRR11, SMG8, YPEL2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3567713
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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