A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3677382



Internal ID18628977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6266604..6445990hg38UCSC Ensembl
Innerchr8:6124125..6303511hg19UCSC Ensembl
Innerchr8:6111533..6290919hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38179387
hg19179387
hg18179387
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1024103
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)nssv3677382
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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