A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2279299



Internal ID17457837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:39333124..39373689hg38UCSC Ensembl
Innerchr3:39374615..39415180hg19UCSC Ensembl
Innerchr3:39349619..39390184hg18UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg3840566
hg1940566
hg1840566
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963309
Supporting Variants
SamplesHGDP00778
Known GenesCCR8
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)nssv2279299
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