A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv437988



Internal ID15387799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:79176784..79281658hg38UCSC Ensembl
Innerchr7:78806100..78910974hg19UCSC Ensembl
Innerchr7:78644036..78748910hg18UCSC Ensembl
Innerchr7:78418151..78523025hg16UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38104875
hg19104875
hg18104875
hg16104875
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv468914, nssv468911, nssv468912, nssv468913, nssv468915
SamplesNA19092, NA19130, NA19132, NA19094
Known GenesMAGI2
MethodSNP array
AnalysisHardy-Weinberg disequilibrium - we looked for genomic regions in which hetobs/hetexp consistency fell below some cutoff (we used cutoffs of 0.7 and 0.4).
Mendelian 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)nsv437988
Frequency
Sample Size269
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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