A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016247



Internal ID19105466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:138925511..138977763hg38UCSC Ensembl
Innerchr8:139937754..139990006hg19UCSC Ensembl
Innerchr8:140006936..140059188hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3852253
hg1952253
hg1852253
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7328n100
Supporting Variantsnssv3690061, nssv3690062
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1016247
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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