A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv468272



Internal ID15038511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:53585008..53617402hg38UCSC Ensembl
Innerchr4:54451175..54483569hg19UCSC Ensembl
Innerchr4:54145932..54178326hg18UCSC Ensembl
Innerchr4:54366717..54399111hg16UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3832395
hg1932395
hg1832395
hg1632395
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv437918
Supporting Variants
SamplesNA12802
Known GenesLNX1, LNX1-AS2
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)nssv468272
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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