A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582812



Internal ID16370221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:122358430..122459271hg38UCSC Ensembl
Innerchr2:123116006..123216847hg19UCSC Ensembl
Innerchr2:122832476..122933317hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38100842
hg19100842
hg18100842
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv916476
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582812
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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