A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1824018



Internal ID17876508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:236980904..236982003hg38UCSC Ensembl
Innerchr1:237144204..237145303hg19UCSC Ensembl
Innerchr1:235210827..235211926hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg381100
hg191100
hg181100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945386
Supporting Variants
SamplesHGDP01307
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)nssv1824018
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