A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2423867



Internal ID17812487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:131780295..131781783hg38UCSC Ensembl
Innerchr6:132101435..132102923hg19UCSC Ensembl
Innerchr6:132143128..132144616hg18UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg381489
hg191489
hg181489
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv969446
Supporting Variants
SamplesHGDP00927
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)nssv2423867
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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