A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470703



Internal ID15385568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:40407568..40415420hg38UCSC Ensembl
Innerchr18:37987532..37995384hg19UCSC Ensembl
Innerchr18:36241530..36249382hg18UCSC Ensembl
Innerchr18:36239519..36247371hg16UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg387853
hg197853
hg187853
hg167853
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438284
Supporting Variants
SamplesNA18506
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)nssv470703
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer