A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064764



Internal ID18807295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46085720..46172472hg38UCSC Ensembl
Innerchr17:44163086..44249838hg19UCSC Ensembl
Innerchr17:41518904..41605615hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3886753
hg1986753
hg1886712
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3186n100
Supporting Variantsnssv3546071, nssv3546072
Samples
Known GenesKANSL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064764
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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