A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv654189



Internal ID15390841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:107317624..107324829hg38UCSC Ensembl
Innerchr5:106653325..106660530hg19UCSC Ensembl
Innerchr5:106681224..106688429hg18UCSC Ensembl
Innerchr5:106681224..106688429hg17UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg387206
hg197206
hg187206
hg177206
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517277
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv654189
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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