A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1105678



Internal ID15958864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6852283..6879599hg38UCSC Ensembl
Innerchr8:6709805..6737121hg19UCSC Ensembl
Innerchr8:6697215..6724531hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3827317
hg1927317
hg1827317
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv610009
Supporting Variants
Samples
Known GenesDEFB1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1105678
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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