A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438370



Internal ID15041600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131429399..131469490hg38UCSC Ensembl
Innerchr2:132186972..132227063hg19UCSC Ensembl
Innerchr2:131903442..131943533hg18UCSC Ensembl
Innerchr2:132397741..132437832hg16UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3840092
hg1940092
hg1840092
hg1640092
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv471107
SamplesNA19140
Known GenesLOC401010, RNU6-81P
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)nsv438370
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