A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1943240



Internal ID17464890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:101922441..101923664hg38UCSC Ensembl
Innerchr12:102316219..102317442hg19UCSC Ensembl
Innerchr12:100840350..100841573hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg381224
hg191224
hg181224
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983359
Supporting Variants
SamplesHGDP00927
Known GenesDRAM1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1943240
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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