A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057152



Internal ID18799683
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 StatusM
Merged Variants
Supporting Variantsnssv3567713
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)nsv1057152
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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