A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2420220



Internal ID17393650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:110856817..110863897hg38UCSC Ensembl
Innerchr6:111178020..111185100hg19UCSC Ensembl
Innerchr6:111284713..111291793hg18UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg387081
hg197081
hg187081
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965752
Supporting Variants
SamplesHGDP00456
Known GenesAMD1
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)nssv2420220
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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