A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583235



Internal ID16370644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:141739416..141757088hg38UCSC Ensembl
Innerchr2:142496985..142514657hg19UCSC Ensembl
Innerchr2:142213455..142231127hg18UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3817673
hg1917673
hg1817673
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151319
Samples1780862530_A
Known GenesLRP1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583235
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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