A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv468911



Internal ID15386911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:79198190..79203742hg38UCSC Ensembl
Innerchr7:78827506..78833058hg19UCSC Ensembl
Innerchr7:78665442..78670994hg18UCSC Ensembl
Innerchr7:78439557..78445109hg16UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg385553
hg195553
hg185553
hg165553
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv437988
Supporting Variants
SamplesNA19092
Known GenesMAGI2
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)nssv468911
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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