A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1105863



Internal ID15612363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7863709..7903250hg38UCSC Ensembl
Innerchr8:7721231..7760772hg19UCSC Ensembl
Innerchr8:7758641..7798182hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3839542
hg1939542
hg1839542
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv610138
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, DEFB4A, SPAG11A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1105863
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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