A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv933548



Internal ID16227504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:228894612..228895193hg38UCSC Ensembl
Innerchr2:229759328..229759909hg19UCSC Ensembl
Innerchr2:229467572..229468153hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38582
hg19582
hg18582
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv584642
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)nssv933548
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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