A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1945657



Internal ID17810878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:120497866..120498366hg38UCSC Ensembl
Innerchr12:120935669..120936169hg19UCSC Ensembl
Innerchr12:119420052..119420552hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv973129
Supporting Variants
SamplesHGDP00927
Known GenesDYNLL1
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)nssv1945657
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