A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv651825



Internal ID15041791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:8863250..8990417hg38UCSC Ensembl
Innerchr2:9003380..9130546hg19UCSC Ensembl
Innerchr2:8920831..9047997hg18UCSC Ensembl
Innerchr2:8953978..9081144hg17UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38127168
hg19127167
hg18127167
hg17127167
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517367
Supporting Variants
Samples
Known GenesMBOAT2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv651825
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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