A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3556566



Internal ID18508161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46137522..46612303hg38UCSC Ensembl
Innerchr17:44214888..44689669hg19UCSC Ensembl
Innerchr17:41570665..42044985hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38474782
hg19474782
hg18474321
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1067514
Supporting Variants
Samples
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, LRRC37A2, NSF, NSFP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3556566
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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