A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv687928



Internal ID15424580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:51451911..51502098hg38UCSC Ensembl
Innerchr12:51845695..51895882hg19UCSC Ensembl
Innerchr12:50131962..50182149hg18UCSC Ensembl
Innerchr12:50131962..50182149hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3850188
hg1950188
hg1850188
hg1750188
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519438
Supporting Variants
Samples
Known GenesSLC4A8
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv687928
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