A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv683823



Internal ID15073789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:57189889..57222230hg38UCSC Ensembl
Innerchr12:57583672..57616013hg19UCSC Ensembl
Innerchr12:55869939..55902280hg18UCSC Ensembl
Innerchr12:55869939..55902280hg17UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3832342
hg1932342
hg1832342
hg1732342
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519293
Supporting Variants
Samples
Known GenesLRP1, MIR1228, NXPH4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv683823
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