A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700795



Internal ID15437447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:158977121..158996737hg38UCSC Ensembl
Innerchr5:158404129..158423745hg19UCSC Ensembl
Innerchr5:158336707..158356323hg18UCSC Ensembl
Innerchr5:158336707..158356323hg17UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg3819617
hg1919617
hg1819617
hg1719617
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524803
Supporting Variants
Samples
Known GenesEBF1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700795
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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