A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv652339



Internal ID15042305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:53044022..53227927hg38UCSC Ensembl
Innerchr12:53437806..53621711hg19UCSC Ensembl
Innerchr12:51724073..51907978hg18UCSC Ensembl
Innerchr12:51724073..51907978hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38183906
hg19183906
hg18183906
hg17183906
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517066
Supporting Variants
Samples
Known GenesCSAD, IGFBP6, ITGB7, LOC283335, MIR6757, RARG, SOAT2, SPRYD3, TENC1, ZNF740
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv652339
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