A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438000



Internal ID15387811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:118422350..118432791hg38UCSC Ensembl
Innerchr7:118062404..118072845hg19UCSC Ensembl
Innerchr7:117849640..117860081hg18UCSC Ensembl
Innerchr7:117616907..117627348hg16UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg3810442
hg1910442
hg1810442
hg1610442
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv469073, nssv469072
SamplesNA12801, NA12813
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)nsv438000
Frequency
Sample Size269
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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