A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470142



Internal ID15384264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:12002067..12030530hg38UCSC Ensembl
InnerchrX:12020186..12048649hg19UCSC Ensembl
InnerchrX:11930107..11958570hg18UCSC Ensembl
InnerchrX:11381612..11410075hg16UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg3828464
hg1928464
hg1828464
hg1628464
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438123
Supporting Variants
SamplesNA10839
Known Genes
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.
PlatformNot reported
Comments
ReferenceMcCarroll_et_al_2006
Pubmed ID16468122
Accession Number(s)nssv470142
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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