A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1018782



Internal ID18761315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6126510..6426852hg38UCSC Ensembl
Innerchr8:5984032..6284373hg19UCSC Ensembl
Innerchr8:5971440..6271781hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38300343
hg19300342
hg18300342
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3677371
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)nsv1018782
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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