A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv698849



Internal ID15088815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:189877..223694hg38UCSC Ensembl
Innerchr12:299043..332860hg19UCSC Ensembl
Innerchr12:169304..203121hg18UCSC Ensembl
Innerchr12:169304..203121hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3833818
hg1933818
hg1833818
hg1733818
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv523142
Supporting Variants
Samples
Known GenesSLC6A12, SLC6A13
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv698849
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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