A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583183



Internal ID16023906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:138887302..138956334hg38UCSC Ensembl
Innerchr2:139644872..139713904hg19UCSC Ensembl
Innerchr2:139361342..139430374hg18UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3869033
hg1969033
hg1869033
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv920107
Samples
Known GenesYY1P2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583183
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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