A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv469769



Internal ID15040147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:20135591..20165660hg38UCSC Ensembl
Innerchr8:19993102..20023171hg19UCSC Ensembl
Innerchr8:20037382..20067451hg18UCSC Ensembl
Innerchr8:20003375..20033444hg16UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3830070
hg1930070
hg1830070
hg1630070
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438045
Supporting Variants
SamplesNA18997
Known GenesSLC18A1
MethodSNP array
AnalysisNull genotypes - for each genotype assay and population sample we defined the null genotype pattern of that assay as the binary vector (length 90) of null genotype calls across the 90 individuals.
PlatformNot reported
Comments
ReferenceMcCarroll_et_al_2006
Pubmed ID16468122
Accession Number(s)nssv469769
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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