A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1106608



Internal ID15613108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12307099..12419765hg38UCSC Ensembl
Innerchr8:12164608..12277274hg19UCSC Ensembl
Innerchr8:12208978..12321645hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38112667
hg19112667
hg18112668
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv610322
Supporting Variants
Samples
Known GenesDEFB109P1, DEFB130, FAM66A, FAM90A25P, LOC100133267, LOC649352
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1106608
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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