A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3754254



Internal ID18705849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:11930637..12305332hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg18374696
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1015618
Supporting Variants
Samples
Known GenesDEFB109P1, DEFB130, FAM66A, FAM66D, FAM86B1, FAM90A2P, LOC100133267, LOC392196, LOC649352, 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)nssv3754254
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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