A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697540



Internal ID15087506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:230279547..230280472hg38UCSC Ensembl
Innerchr1:230415293..230416218hg19UCSC Ensembl
Innerchr1:228481916..228482841hg18UCSC Ensembl
Innerchr1:226722028..226722953hg17UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38926
hg19926
hg18926
hg17926
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520656
Supporting Variants
Samples
Known GenesGALNT2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697540
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