A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438365



Internal ID15041595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:107971254..107990644hg38UCSC Ensembl
Innerchr2:108587710..108607100hg19UCSC Ensembl
Innerchr2:107954142..107973532hg18UCSC Ensembl
Innerchr2:108209110..108228500hg16UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg3819391
hg1919391
hg1819391
hg1619391
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv471085
SamplesNA18872
Known GenesSLC5A7
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)nsv438365
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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