A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583195



Internal ID16370604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:140657474..140708815hg38UCSC Ensembl
Innerchr2:141415043..141466384hg19UCSC Ensembl
Innerchr2:141131513..141182854hg18UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3851342
hg1951342
hg1851342
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7089n54
Supporting Variantsnssv920117
Samples
Known GenesLRP1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583195
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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