A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063436



Internal ID18805967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088437..46190324hg38UCSC Ensembl
Innerchr17:44165803..44267690hg19UCSC Ensembl
Innerchr17:41521621..41623467hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38101888
hg19101888
hg18101847
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3182n100
Supporting Variantsnssv3546260, nssv3546261, nssv3546262
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)nsv1063436
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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