A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700323



Internal ID15090289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6405562..6433964hg38UCSC Ensembl
Innerchr8:6263083..6291485hg19UCSC Ensembl
Innerchr8:6250491..6278893hg18UCSC Ensembl
Innerchr8:6250491..6278893hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3828403
hg1928403
hg1828403
hg1728403
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524404
Supporting Variants
Samples
Known GenesLOC100287015, MCPH1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700323
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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