A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3685520



Internal ID18637115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:27767011..27821659hg38UCSC Ensembl
Innerchr8:27624528..27679176hg19UCSC Ensembl
Innerchr8:27680447..27735095hg18UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg3854649
hg1954649
hg1854649
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1017032
Supporting Variants
Samples
Known GenesCCDC25, ESCO2, PBK
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3685520
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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