A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3753987



Internal ID18705582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6347336..6432416hg38UCSC Ensembl
Innerchr8:6204857..6289937hg19UCSC Ensembl
Innerchr8:6192265..6277345hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3885081
hg1985081
hg1885081
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1018882
Supporting Variants
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)nssv3753987
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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