A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2419633



Internal ID17878425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:110923641..110925079hg38UCSC Ensembl
Innerchr6:111244844..111246282hg19UCSC Ensembl
Innerchr6:111351537..111352975hg18UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg381439
hg191439
hg181439
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981173
Supporting Variants
SamplesHGDP01307
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)nssv2419633
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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