A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2425918



Internal ID17438817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:136275655..136276465hg38UCSC Ensembl
Innerchr6:136596793..136597603hg19UCSC Ensembl
Innerchr6:136638486..136639296hg18UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38811
hg19811
hg18811
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965771
Supporting Variants
SamplesHGDP00665
Known GenesBCLAF1
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)nssv2425918
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