A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1914802



Internal ID17746832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9283994..9287160hg38UCSC Ensembl
Innerchr12:9436590..9439756hg19UCSC Ensembl
Innerchr12:9327857..9331023hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg383167
hg193167
hg183167
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv983274
Supporting Variants
SamplesHGDP00521
Known GenesLOC642846
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1914802
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