A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2423099



Internal ID17868939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:132516128..132519263hg38UCSC Ensembl
Innerchr6:132837267..132840402hg19UCSC Ensembl
Innerchr6:132878960..132882095hg18UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg383136
hg193136
hg183136
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv969447
Supporting Variants
SamplesHGDP01284
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)nssv2423099
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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