A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2282320



Internal ID17732148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:72088063..72092192hg38UCSC Ensembl
Innerchr3:72137214..72141343hg19UCSC Ensembl
Innerchr3:72219904..72224033hg18UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg384130
hg194130
hg184130
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967021
Supporting Variants
SamplesHGDP00456
Known GenesLINC00877
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)nssv2282320
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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