A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1018857



Internal ID19108074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7112292..7359518hg38UCSC Ensembl
Innerchr8:6969814..7217040hg19UCSC Ensembl
Innerchr8:6957224..7204450hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38247227
hg19247227
hg18247227
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6884n100
Supporting Variantsnssv3677474
Samples
Known GenesDEFB109P1B, FAM66B, LINC00965, USP17L1P, USP17L4, ZNF705G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1018857
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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