A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438130



Internal ID15387941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:47627159..47629594hg38UCSC Ensembl
InnerchrX:47486558..47488993hg19UCSC Ensembl
InnerchrX:47371502..47373937hg18UCSC Ensembl
InnerchrX:46532540..46534975hg16UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg382436
hg192436
hg182436
hg162436
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv470161, nssv470160, nssv470158, nssv470159
SamplesNA18502, NA19221, NA19223, NA18500
Known GenesCFP
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)nsv438130
Frequency
Sample Size269
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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