A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv690934



Internal ID15080900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:21389013..21426146hg38UCSC Ensembl
Innerchr12:21541947..21579080hg19UCSC Ensembl
Innerchr12:21433214..21470347hg18UCSC Ensembl
Innerchr12:21433214..21470347hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3837134
hg1937134
hg1837134
hg1737134
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519603
Supporting Variants
Samples
Known GenesSLCO1A2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv690934
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