A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705904



Internal ID15442556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:73160594..73164299hg38UCSC Ensembl
Innerchr5:72456421..72460126hg19UCSC Ensembl
Innerchr5:72492177..72495882hg18UCSC Ensembl
Innerchr5:72492177..72495882hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg383706
hg193706
hg183706
hg173706
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522532
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705904
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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