A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv689983



Internal ID15426635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:113043962..113060477hg38UCSC Ensembl
Innerchr5:112379659..112396174hg19UCSC Ensembl
Innerchr5:112407558..112424073hg18UCSC Ensembl
Innerchr5:112407558..112424073hg17UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg3816516
hg1916516
hg1816516
hg1716516
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516887
Supporting Variants
Samples
Known GenesMCC
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv689983
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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