A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022940



Internal ID18765474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6271307..6447293hg38UCSC Ensembl
Innerchr8:6128828..6304814hg19UCSC Ensembl
Innerchr8:6116236..6292222hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38175987
hg19175987
hg18175987
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6868n100
Supporting Variantsnssv3677386
Samples
Known GenesLOC100287015, MCPH1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1022940
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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