A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3681851



Internal ID18633446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12130205..12555281hg38UCSC Ensembl
Innerchr8:11987714..12412790hg19UCSC Ensembl
Innerchr8:12025123..12457161hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38425077
hg19425077
hg18432039
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1030448
Supporting Variants
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)nssv3681851
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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