A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1927300



Internal ID17828803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:48487717..48488633hg38UCSC Ensembl
Innerchr12:48881500..48882416hg19UCSC Ensembl
Innerchr12:47167767..47168683hg18UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38917
hg19917
hg18917
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975484
Supporting Variants
SamplesHGDP00998
Known GenesC12orf54
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)nssv1927300
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