A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2413848



Internal ID17842204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:65836872..65837970hg38UCSC Ensembl
Innerchr6:66546765..66547863hg19UCSC Ensembl
Innerchr6:66603486..66604584hg18UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970136
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)nssv2413848
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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