A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv675040



Internal ID15065006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7022281..7149893hg38UCSC Ensembl
Innerchr8:6879803..7007415hg19UCSC Ensembl
Innerchr8:6867213..6994825hg18UCSC Ensembl
Innerchr8:6867213..6994825hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38127613
hg19127613
hg18127613
hg17127613
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515968
Supporting Variants
Samples
Known GenesDEFA11P, DEFA5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv675040
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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