A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv904646



Internal ID15851916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:32999538..33001006hg38UCSC Ensembl
Innerchr2:33224605..33226073hg19UCSC Ensembl
Innerchr2:33078109..33079577hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg381469
hg191469
hg181469
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv581289
Supporting Variants
Samples
Known GenesLTBP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv904646
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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