A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3754288



Internal ID18705883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12139574..12581370hg38UCSC Ensembl
Innerchr8:11997083..12438879hg19UCSC Ensembl
Innerchr8:12034492..12483250hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38441797
hg19441797
hg18448759
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1031929
Supporting Variants
Samples
Known GenesDEFB109P1, DEFB130, FAM66A, FAM66D, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, LOC100506990, LOC649352, LOC729732
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3754288
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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