A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700805



Internal ID15437457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:116181541..116248462hg38UCSC Ensembl
Innerchr5:115517238..115584159hg19UCSC Ensembl
Innerchr5:115545137..115612058hg18UCSC Ensembl
Innerchr5:115545137..115612058hg17UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3866922
hg1966922
hg1866922
hg1766922
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524812
Supporting Variants
Samples
Known GenesCOMMD10
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700805
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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