A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv930575



Internal ID16224531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:203318233..203326184hg38UCSC Ensembl
Innerchr2:204182956..204190907hg19UCSC Ensembl
Innerchr2:203891201..203899152hg18UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg387952
hg197952
hg187952
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv584230
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)nssv930575
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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