A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv689672



Internal ID15426324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:142562504..142573802hg38UCSC Ensembl
Innerchr2:143320073..143331371hg19UCSC Ensembl
Innerchr2:143036543..143047841hg18UCSC Ensembl
Innerchr2:143153805..143165103hg17UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg3811299
hg1911299
hg1811299
hg1711299
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519905
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv689672
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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