A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700852



Internal ID15437504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:126549748..126847694hg38UCSC Ensembl
Innerchr4:127470903..127768849hg19UCSC Ensembl
Innerchr4:127690353..127988299hg18UCSC Ensembl
Innerchr4:127828508..128126454hg17UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg38297947
hg19297947
hg18297947
hg17297947
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524850
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700852
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