A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1033935



Internal ID18776469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6404659..6418232hg38UCSC Ensembl
Innerchr8:6262180..6275753hg19UCSC Ensembl
Innerchr8:6249588..6263161hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3813574
hg1913574
hg1813574
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3677426
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)nsv1033935
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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