A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2419829



Internal ID17805620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:111430113..111431817hg38UCSC Ensembl
Innerchr6:111751316..111753020hg19UCSC Ensembl
Innerchr6:111858009..111859713hg18UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg381705
hg191705
hg181705
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981174
Supporting Variants
SamplesHGDP00778
Known GenesREV3L
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)nssv2419829
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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