A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1948064



Internal ID17867890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:127624349..127625524hg38UCSC Ensembl
Innerchr12:128108894..128110069hg19UCSC Ensembl
Innerchr12:126674847..126676022hg18UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg381176
hg191176
hg181176
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983373
Supporting Variants
SamplesHGDP01284
Known Genes
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)nssv1948064
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