A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv698047



Internal ID15088013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:3107364..3110624hg38UCSC Ensembl
Innerchr20:3088010..3091270hg19UCSC Ensembl
Innerchr20:3036010..3039270hg18UCSC Ensembl
Innerchr20:3036010..3039270hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg383261
hg193261
hg183261
hg173261
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521437
Supporting Variants
Samples
Known GenesUBOX5, UBOX5-AS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv698047
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