A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704787



Internal ID15094753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:13893149..13914011hg38UCSC Ensembl
Innerchr5:13893258..13914120hg19UCSC Ensembl
Innerchr5:13946258..13967120hg18UCSC Ensembl
Innerchr5:13946258..13967120hg17UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3820863
hg1920863
hg1820863
hg1720863
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516415
Supporting Variants
Samples
Known GenesDNAH5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704787
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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