A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv437978



Internal ID15387789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:147945617..147950695hg38UCSC Ensembl
Innerchr6:148266753..148271831hg19UCSC Ensembl
Innerchr6:148308446..148313524hg18UCSC Ensembl
Innerchr6:148247323..148252401hg16UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg385079
hg195079
hg185079
hg165079
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv468884, nssv468883
SamplesNA19092, NA19094
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)nsv437978
Frequency
Sample Size269
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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