A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1917750



Internal ID17392224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:12690885..12691599hg38UCSC Ensembl
Innerchr12:12843819..12844533hg19UCSC Ensembl
Innerchr12:12735086..12735800hg18UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg38715
hg19715
hg18715
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983287
Supporting Variants
SamplesHGDP00456
Known GenesGPR19
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)nssv1917750
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