A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv702004



Internal ID15091970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:110733221..110738689hg38UCSC Ensembl
Innerchr12:111171026..111176494hg19UCSC Ensembl
Innerchr12:109655409..109660877hg18UCSC Ensembl
Innerchr12:109633746..109639214hg17UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg385469
hg195469
hg185469
hg175469
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525818
Supporting Variants
Samples
Known GenesPPP1CC
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv702004
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