A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583197



Internal ID16370606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:140671182..140730328hg38UCSC Ensembl
Innerchr2:141428751..141487897hg19UCSC Ensembl
Innerchr2:141145221..141204367hg18UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3859147
hg1959147
hg1859147
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7090n54
Supporting Variantsnssv1151312, nssv1151311
SamplesNINDS_212, 1780862310_A
Known GenesLRP1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583197
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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