A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv683898



Internal ID15073864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:46647072..46692951hg38UCSC Ensembl
Innerchr3:46688562..46734441hg19UCSC Ensembl
Innerchr3:46663566..46709445hg18UCSC Ensembl
Innerchr3:46663566..46709445hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3845880
hg1945880
hg1845880
hg1745880
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516623
Supporting Variants
Samples
Known GenesALS2CL
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv683898
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