A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581294



Internal ID16022017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:32999538..33003100hg38UCSC Ensembl
Innerchr2:33224605..33228167hg19UCSC Ensembl
Innerchr2:33078109..33081671hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg383563
hg193563
hg183563
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv904857
Samples
Known GenesLTBP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581294
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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