A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053092



Internal ID18795623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132841203..132947727hg38UCSC Ensembl
Innerchr12:133417789..133524313hg19UCSC Ensembl
Innerchr12:131927862..132034386hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38106525
hg19106525
hg18106525
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1589n100
Supporting Variantsnssv3712686
Samples
Known GenesCHFR, ZNF605
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053092
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer