A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1021066



Internal ID18763600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12019686..12697234hg38UCSC Ensembl
Innerchr8:11877195..12554743hg19UCSC Ensembl
Innerchr8:11914604..12599114hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38677549
hg19677549
hg18684511
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7016n100
Supporting Variantsnssv3754249, nssv3754250
Samples
Known GenesDEFB109P1, DEFB130, FAM66A, FAM66D, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, LOC100506990, LOC392196, LOC649352, LOC729732, USP17L2, USP17L7, ZNF705D
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1021066
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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