A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2215042



Internal ID17787380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:197378877..197382802hg38UCSC Ensembl
Innerchr2:198243601..198247526hg19UCSC Ensembl
Innerchr2:197951846..197955771hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg383926
hg193926
hg183926
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979160
Supporting Variants
SamplesHGDP00665
Known Genes
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)nssv2215042
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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