A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv525227



Internal ID15105834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:64843704..64902359hg38UCSC Ensembl
Innerchr1:65309387..65368042hg19UCSC Ensembl
Innerchr1:65081975..65140630hg18UCSC Ensembl
Innerchr1:65021408..65080063hg17UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3858656
hg1958656
hg1858656
hg1758656
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv701316
Samples
Known GenesJAK1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv525227
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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