A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527005



Internal ID15107612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6271530..6429649hg38UCSC Ensembl
Innerchr8:6129051..6287170hg19UCSC Ensembl
Innerchr8:6116459..6274578hg18UCSC Ensembl
Innerchr8:6116459..6274578hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38158120
hg19158120
hg18158120
hg17158120
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv703380
Samples
Known GenesLOC100287015, MCPH1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527005
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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