A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv678440



Internal ID15415092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:149618123..149627163hg38UCSC Ensembl
Innerchr5:148997686..149006726hg19UCSC Ensembl
Innerchr5:148977879..148986919hg18UCSC Ensembl
Innerchr5:148977879..148986919hg17UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg389041
hg199041
hg189041
hg179041
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516760
Supporting Variants
Samples
Known GenesARHGEF37
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv678440
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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