A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705479



Internal ID15442131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:113305953..113315054hg38UCSC Ensembl
Innerchr5:112641650..112650751hg19UCSC Ensembl
Innerchr5:112669549..112678650hg18UCSC Ensembl
Innerchr5:112669549..112678650hg17UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg389102
hg199102
hg189102
hg179102
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528805
Supporting Variants
Samples
Known GenesMCC
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705479
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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