A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2418738



Internal ID17835930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:100889774..100891794hg38UCSC Ensembl
Innerchr6:101337650..101339670hg19UCSC Ensembl
Innerchr6:101444371..101446391hg18UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg382021
hg192021
hg182021
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv969432
Supporting Variants
SamplesHGDP00998
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)nssv2418738
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