A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017918



Internal ID18760451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12025123..12387972hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg18362850
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7026n100
Supporting Variantsnssv3754273, nssv3754275, nssv3681832, nssv3754274
Samples
Known GenesDEFB109P1, DEFB130, FAM66A, FAM66D, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, LOC100506990, LOC649352, 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)nsv1017918
Frequency
Sample Size29084
Observed Gain2
Observed Loss2
Observed Complex0
Frequencyn/a


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