A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697746



Internal ID15087712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:178983..194154hg38UCSC Ensembl
Innerchr12:288149..303320hg19UCSC Ensembl
Innerchr12:158410..173581hg18UCSC Ensembl
Innerchr12:158410..173581hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3815172
hg1915172
hg1815172
hg1715172
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515938
Supporting Variants
Samples
Known GenesSLC6A12
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697746
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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