A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694748



Internal ID15431400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:19768609..19774579hg38UCSC Ensembl
Innerchr8:19626120..19632090hg19UCSC Ensembl
Innerchr8:19670400..19676370hg18UCSC Ensembl
Innerchr8:19670400..19676370hg17UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg385971
hg195971
hg185971
hg175971
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521981
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694748
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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