A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063892



Internal ID18806423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:19661321..19905172hg38UCSC Ensembl
Innerchr17:19564634..19808485hg19UCSC Ensembl
Innerchr17:19505226..19749077hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38243852
hg19243852
hg18243852
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3560904
Samples
Known GenesAKAP10, ALDH3A1, ALDH3A2, SLC47A2, ULK2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1063892
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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