A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1990777



Internal ID17539124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:67704611..67714891hg38UCSC Ensembl
Innerchr14:68171328..68181608hg19UCSC Ensembl
Innerchr14:67241081..67251361hg18UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg3810281
hg1910281
hg1810281
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976349
Supporting Variants
SamplesHGDP01307
Known GenesRDH12
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)nssv1990777
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