A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697541



Internal ID15087507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:164759961..164790831hg38UCSC Ensembl
Innerchr2:165616471..165647341hg19UCSC Ensembl
Innerchr2:165324717..165355587hg18UCSC Ensembl
Innerchr2:165441978..165472848hg17UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3830871
hg1930871
hg1830871
hg1730871
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520658
Supporting Variants
Samples
Known GenesCOBLL1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697541
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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