A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1026142



Internal ID18768674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12130205..12564499hg38UCSC Ensembl
Innerchr8:11987714..12422008hg19UCSC Ensembl
Innerchr8:12025123..12466379hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38434295
hg19434295
hg18441257
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7026n100
Supporting Variantsnssv3681854, nssv3681857, nssv3681855, nssv3681856, nssv3681858
Samples
Known GenesDEFB109P1, DEFB130, FAM66A, FAM66D, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, LOC100506990, LOC649352, LOC729732, USP17L2, USP17L7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1026142
Frequency
Sample Size29084
Observed Gain3
Observed Loss2
Observed Complex0
Frequencyn/a


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