A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1019201



Internal ID19108419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7130934..7409831hg38UCSC Ensembl
Innerchr8:6988456..7267353hg19UCSC Ensembl
Innerchr8:6975866..7254763hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38278898
hg19278898
hg18278898
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6884n100
Supporting Variantsnssv3677480
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)nsv1019201
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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