A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438238



Internal ID15041469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:118997948..119003407hg38UCSC Ensembl
Innerchr12:119435753..119441212hg19UCSC Ensembl
Innerchr12:117920136..117925595hg18UCSC Ensembl
Innerchr12:117847706..117853165hg16UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg385460
hg195460
hg185460
hg165460
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv470551, nssv470553
SamplesNA18959, NA18976
Known GenesSRRM4
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)nsv438238
Frequency
Sample Size269
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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