A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438188



Internal ID15041419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:3977719..3979376hg38UCSC Ensembl
Innerchr12:4086885..4088542hg19UCSC Ensembl
Innerchr12:3957146..3958803hg18UCSC Ensembl
Innerchr12:3957146..3958803hg16UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg381658
hg191658
hg181658
hg161658
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv470339, nssv470342, nssv470338, nssv470340
SamplesNA18592, NA18547, NA18976, NA18576
Known Genes
MethodSNP array
AnalysisNull genotypes - for each genotype assay and population sample we defined the null genotype pattern of that assay as the binary vector (length 90) of null genotype calls across the 90 individuals.
PlatformNot reported
Comments
ReferenceMcCarroll_et_al_2006
Pubmed ID16468122
Accession Number(s)nsv438188
Frequency
Sample Size269
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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