A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3753988



Internal ID19052269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6461739..6474636hg38UCSC Ensembl
Innerchr8:6319260..6332157hg19UCSC Ensembl
Innerchr8:6306668..6319565hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3812898
hg1912898
hg1812898
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1023443
Supporting Variants
Samples
Known GenesMCPH1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3753988
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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