A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2421103



Internal ID17394717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:114082319..114086937hg38UCSC Ensembl
Innerchr6:114403483..114408101hg19UCSC Ensembl
Innerchr6:114510176..114514794hg18UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg384619
hg194619
hg184619
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965757
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)nssv2421103
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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