A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1799974



Internal ID17525320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:154155647..154157836hg38UCSC Ensembl
Innerchr1:154128123..154130312hg19UCSC Ensembl
Innerchr1:152394747..152396936hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg382190
hg192190
hg182190
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946404
Supporting Variants
SamplesHGDP01284
Known GenesTPM3
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)nssv1799974
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