A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470060



Internal ID15386922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:5112519..5113577hg38UCSC Ensembl
Innerchr9:5112519..5113577hg19UCSC Ensembl
Innerchr9:5102519..5103577hg18UCSC Ensembl
Innerchr9:5102519..5103577hg16UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg381059
hg191059
hg181059
hg161059
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438090
Supporting Variants
SamplesNA19093
Known GenesJAK2
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)nssv470060
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