A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv916427



Internal ID16210383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:118765111..118804333hg38UCSC Ensembl
Innerchr2:119522687..119561909hg19UCSC Ensembl
Innerchr2:119239157..119278379hg18UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg3839223
hg1939223
hg1839223
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv582782
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv916427
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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