A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016218



Internal ID18758753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6951385..7368902hg38UCSC Ensembl
Innerchr8:6808907..7226424hg19UCSC Ensembl
Innerchr8:6796317..7213834hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38417518
hg19417518
hg18417518
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6879n100
Supporting Variantsnssv3677442
Samples
Known GenesDEFA1, DEFA10P, DEFA11P, DEFA1B, DEFA3, DEFA5, DEFA8P, DEFA9P, DEFB109P1B, DEFT1P, DEFT1P2, 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)nsv1016218
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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