A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2423602



Internal ID17739355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:133149946..133157037hg38UCSC Ensembl
Innerchr6:133471085..133478176hg19UCSC Ensembl
Innerchr6:133512778..133519869hg18UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg387092
hg197092
hg187092
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv969449
Supporting Variants
SamplesHGDP00456
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)nssv2423602
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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