A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438398



Internal ID15388208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:52999780..53003679hg38UCSC Ensembl
Innerchr3:53033796..53037695hg19UCSC Ensembl
Innerchr3:53008836..53012735hg18UCSC Ensembl
Innerchr3:52991144..52995043hg16UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg383900
hg193900
hg183900
hg163900
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv471259, nssv471260
SamplesNA12801, NA12812
Known GenesSFMBT1
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)nsv438398
Frequency
Sample Size269
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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