A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3724013



Internal ID18675608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46137522..46383054hg38UCSC Ensembl
Innerchr17:44214888..44460420hg19UCSC Ensembl
Innerchr17:41570665..41815840hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38245533
hg19245533
hg18245176
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1060883
Supporting Variants
Samples
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, NSFP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3724013
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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