A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2425689



Internal ID17751965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:148566783..148567648hg38UCSC Ensembl
Innerchr6:148887919..148888784hg19UCSC Ensembl
Innerchr6:148929612..148930477hg18UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg38866
hg19866
hg18866
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv969454
Supporting Variants
SamplesHGDP00521
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)nssv2425689
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