A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3685521



Internal ID18637116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:27780880..27825580hg38UCSC Ensembl
Innerchr8:27638397..27683097hg19UCSC Ensembl
Innerchr8:27694316..27739016hg18UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg3844701
hg1944701
hg1844701
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1026852
Supporting Variants
Samples
Known GenesESCO2, PBK
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3685521
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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