A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv614143



Internal ID16054866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:32583509..33141754hg38UCSC Ensembl
Innerchr9:32583507..33141752hg19UCSC Ensembl
Innerchr9:32573507..33131752hg18UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg38558246
hg19558246
hg18558246
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1132837
Samples
Known GenesAPTX, B4GALT1, DNAJA1, SMU1, TAF1L, TMEM215
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv614143
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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