A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063349



Internal ID18805880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46039494..46358076hg38UCSC Ensembl
Innerchr17:44116860..44435442hg19UCSC Ensembl
Innerchr17:41472707..41791184hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38318583
hg19318583
hg18318478
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3545129
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)nsv1063349
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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