A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1921998



Internal ID17399174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:29657342..29659810hg38UCSC Ensembl
Innerchr12:29810275..29812743hg19UCSC Ensembl
Innerchr12:29701542..29704010hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg382469
hg192469
hg182469
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983298
Supporting Variants
SamplesHGDP00521
Known GenesTMTC1
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)nssv1921998
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