A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv669978



Internal ID15406630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:176529270..176537482hg38UCSC Ensembl
Innerchr5:175956271..175964483hg19UCSC Ensembl
Innerchr5:175888877..175897089hg18UCSC Ensembl
Innerchr5:175888877..175897089hg17UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg388213
hg198213
hg188213
hg178213
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516244
Supporting Variants
Samples
Known GenesRNF44
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv669978
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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