A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv437900



Internal ID15388250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:179570491..179572305hg38UCSC Ensembl
Innerchr3:179288279..179290093hg19UCSC Ensembl
Innerchr3:180770973..180772787hg18UCSC Ensembl
Innerchr3:180609192..180611006hg16UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg381815
hg191815
hg181815
hg161815
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv467879, nssv467878
SamplesNA10851, NA12057
Known GenesACTL6A
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)nsv437900
Frequency
Sample Size269
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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