A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438149



Internal ID15041380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:109652018..109730612hg38UCSC Ensembl
InnerchrX:108895247..108973841hg19UCSC Ensembl
InnerchrX:108781903..108860497hg18UCSC Ensembl
InnerchrX:107659218..107737812hg16UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg3878595
hg1978595
hg1878595
hg1678595
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv470206, nssv470205, nssv470210, nssv470207, nssv470209, nssv470204
SamplesNA18503, NA18501, NA18500, NA19223, NA19153, NA18504
Known GenesACSL4
MethodSNP array
AnalysisMendelian inconsistencies - for each genotype assay and population sample we defined the Mendel failure pattern of that assay as the binary vector (length 60) of Mendel consistency status across the 60 parent-offspring pair.
Null 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)nsv438149
Frequency
Sample Size269
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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