A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv916428



Internal ID15863698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:118821982..119269323hg38UCSC Ensembl
Innerchr2:119579558..120026899hg19UCSC Ensembl
Innerchr2:119296028..119743369hg18UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38447342
hg19447342
hg18447342
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv582783
Supporting Variants
Samples
Known GenesC1QL2, EN1, MARCO, STEAP3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv916428
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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