A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv930579



Internal ID16224535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:203318931..203326381hg38UCSC Ensembl
Innerchr2:204183654..204191104hg19UCSC Ensembl
Innerchr2:203891899..203899349hg18UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg387451
hg197451
hg187451
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv584234
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)nssv930579
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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