A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv930573



Internal ID16224529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:203317361..203326603hg38UCSC Ensembl
Innerchr2:204182084..204191326hg19UCSC Ensembl
Innerchr2:203890329..203899571hg18UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg389243
hg199243
hg189243
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv584228
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)nssv930573
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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