A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065665



Internal ID18808196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:4141953..4210380hg38UCSC Ensembl
Innerchr17:4045247..4113675hg19UCSC Ensembl
Innerchr17:3991996..4060424hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3868428
hg1968429
hg1868429
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3560123
Samples
Known GenesANKFY1, CYB5D2, ZZEF1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065665
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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