A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1105711



Internal ID15612211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7339381..7538969hg38UCSC Ensembl
Innerchr8:7196903..7396491hg19UCSC Ensembl
Innerchr8:7184313..7383901hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38199589
hg19199589
hg18199589
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv610038
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, FAM66B, SPAG11B, ZNF705G
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1105711
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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