A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv468915



Internal ID15387752
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 StatusS
Merged Variantsnsv437988
Supporting Variants
Samples
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).
PlatformNot reported
Comments
ReferenceMcCarroll_et_al_2006
Pubmed ID16468122
Accession Number(s)nssv468915
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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