A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2290327



Internal ID17803981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:108324084..108326656hg38UCSC Ensembl
Innerchr3:108042931..108045503hg19UCSC Ensembl
Innerchr3:109525621..109528193hg18UCSC Ensembl
Cytoband3q13.13
Allele length
AssemblyAllele length
hg382573
hg192573
hg182573
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967048
Supporting Variants
SamplesHGDP00778
Known GenesHHLA2
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)nssv2290327
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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