A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583237



Internal ID16370646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:141834991..141879338hg38UCSC Ensembl
Innerchr2:142592560..142636907hg19UCSC Ensembl
Innerchr2:142309030..142353377hg18UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3844348
hg1944348
hg1844348
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151320
SamplesNINDS_91
Known GenesLRP1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583237
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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