A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1154795



Internal ID22085300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7851829..7971304hg38UCSC Ensembl
Outerchr12:7842191..7978362hg38UCSC Ensembl
Innerchr12:8004425..8123900hg19UCSC Ensembl
Outerchr12:7994787..8130958hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38136172
hg19136172
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv56n97
Supporting Variantsnssv4008362, nssv4008364, nssv4008366, nssv4008365, nssv4008363
Samples
Known GenesSLC2A14, SLC2A3
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nsv1154795
Frequency
Sample Size131
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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