A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2249960



Internal ID17820480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:42918091..42931774hg38UCSC Ensembl
Innerchr21:44338201..44351884hg19UCSC Ensembl
Innerchr21:43211270..43224953hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3813684
hg1913684
hg1813684
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979538
Supporting Variants
SamplesHGDP00927
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)nssv2249960
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