A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700062



Internal ID15436714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:103589967..103597694hg38UCSC Ensembl
Innerchr5:102925668..102933395hg19UCSC Ensembl
Innerchr5:102953567..102961294hg18UCSC Ensembl
Innerchr5:102953567..102961294hg17UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg387728
hg197728
hg187728
hg177728
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524180
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700062
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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