A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3545217



Internal ID18496812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46080109..46323689hg38UCSC Ensembl
Innerchr17:44157475..44401055hg19UCSC Ensembl
Innerchr17:41513294..41756820hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38243581
hg19243581
hg18243527
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1063727
Supporting Variants
Samples
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3545217
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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