A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2092373



Internal ID17541912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:35906705..35920915hg38UCSC Ensembl
Innerchr17:34233709..34247919hg19UCSC Ensembl
Innerchr17:31257822..31272032hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3814211
hg1914211
hg1814211
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960468
Supporting Variants
SamplesHGDP01307
Known GenesRDM1
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)nssv2092373
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