A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv468988



Internal ID15387524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:104992533..105000794hg38UCSC Ensembl
Innerchr7:104632980..104641241hg19UCSC Ensembl
Innerchr7:104420216..104428477hg18UCSC Ensembl
Innerchr7:104193511..104201772hg16UCSC Ensembl
Cytoband7q22.2
Allele length
AssemblyAllele length
hg388262
hg198262
hg188262
hg168262
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv437995
Supporting Variants
SamplesNA19203
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)nssv468988
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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