A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2420865



Internal ID17748735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:116435648..116436743hg38UCSC Ensembl
Innerchr6:116756811..116757906hg19UCSC Ensembl
Innerchr6:116863504..116864599hg18UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg381096
hg191096
hg181096
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965759
Supporting Variants
SamplesHGDP00521
Known GenesDSE
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)nssv2420865
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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