A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1120443



Internal ID15626943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:120222059..120372928hg38UCSC Ensembl
Innerchr8:121234298..121385167hg19UCSC Ensembl
Innerchr8:121303479..121454348hg18UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg38150870
hg19150870
hg18150870
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv612112
Supporting Variants
Samples
Known GenesCOL14A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1120443
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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