A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2245395



Internal ID17768763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:26234078..26235394hg38UCSC Ensembl
Innerchr21:27606397..27607713hg19UCSC Ensembl
Innerchr21:26528268..26529584hg18UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg381317
hg191317
hg181317
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965978
Supporting Variants
SamplesHGDP00542
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)nssv2245395
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