A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2399137



Internal ID17491796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:27131919..27132537hg38UCSC Ensembl
Innerchr6:27099698..27100316hg19UCSC Ensembl
Innerchr6:27207677..27208295hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38619
hg19619
hg18619
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965698
Supporting Variants
SamplesHGDP00998
Known GenesHIST1H2BJ
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)nssv2399137
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