A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv702379



Internal ID15439031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:226286155..226507455hg38UCSC Ensembl
Innerchr2:227150871..227372171hg19UCSC Ensembl
Innerchr2:226859115..227080415hg18UCSC Ensembl
Innerchr2:226976376..227197676hg17UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38221301
hg19221301
hg18221301
hg17221301
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv526127
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv702379
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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