A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583500



Internal ID16024223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:161203306..161389321hg38UCSC Ensembl
Innerchr2:162059817..162245832hg19UCSC Ensembl
Innerchr2:161768063..161954078hg18UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38186016
hg19186016
hg18186016
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150790
Samples1780862414_A
Known GenesPSMD14, TANK
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583500
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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