A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2401794



Internal ID17842644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29488846..29490189hg38UCSC Ensembl
Innerchr6:29456623..29457966hg19UCSC Ensembl
Innerchr6:29564602..29565945hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg381344
hg191344
hg181344
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981125
Supporting Variants
SamplesHGDP00998
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)nssv2401794
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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