A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1105679



Internal ID15612179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6870776..7068347hg38UCSC Ensembl
Innerchr8:6728298..6925869hg19UCSC Ensembl
Innerchr8:6715708..6913279hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38197572
hg19197572
hg18197572
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv610010
Supporting Variants
Samples
Known GenesDEFA1, DEFA10P, DEFA11P, DEFA1B, DEFA3, DEFA4, DEFA5, DEFA6, DEFA8P, DEFA9P, DEFB1, DEFT1P, DEFT1P2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1105679
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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