A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv468601



Internal ID15041010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:127768781..127782795hg38UCSC Ensembl
Innerchr4:128689936..128703950hg19UCSC Ensembl
Innerchr4:128909386..128923400hg18UCSC Ensembl
Innerchr4:129148757..129162771hg16UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg3814015
hg1914015
hg1814015
hg1614015
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv437935
Supporting Variants
SamplesNA19239
Known GenesHSPA4L, SLC25A31
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)nssv468601
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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