A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2212260



Internal ID17805369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:170076958..170079039hg38UCSC Ensembl
Innerchr2:170933468..170935549hg19UCSC Ensembl
Innerchr2:170641714..170643795hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg382082
hg192082
hg182082
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961528
Supporting Variants
SamplesHGDP00778
Known GenesUBR3
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)nssv2212260
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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