A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3665750



Internal ID18964031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12389636..12468589hg38UCSC Ensembl
Innerchr8:12247145..12326098hg19UCSC Ensembl
Innerchr8:12291516..12370469hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3878954
hg1978954
hg1878954
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1017568
Supporting Variants
Samples
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3665750
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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