A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1120442



Internal ID15626942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:119624610..119982154hg38UCSC Ensembl
Innerchr8:120636850..120994394hg19UCSC Ensembl
Innerchr8:120706031..121063575hg18UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg38357545
hg19357545
hg18357545
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv612111
Supporting Variants
Samples
Known GenesDEPTOR, DSCC1, ENPP2, TAF2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1120442
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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