A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv654677



Internal ID15044643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:176880503..176883197hg38UCSC Ensembl
Innerchr5:176307504..176310198hg19UCSC Ensembl
Innerchr5:176240110..176242804hg18UCSC Ensembl
Innerchr5:176240110..176242804hg17UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg382695
hg192695
hg182695
hg172695
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517492
Supporting Variants
Samples
Known GenesHK3, UNC5A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv654677
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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