A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1980962



Internal ID17863228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:25260107..25273022hg38UCSC Ensembl
Innerchr14:25729313..25742228hg19UCSC Ensembl
Innerchr14:24799153..24812068hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3812916
hg1912916
hg1812916
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974318
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)nssv1980962
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