A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2294801



Internal ID17458907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:128959658..128966394hg38UCSC Ensembl
Innerchr3:128678501..128685237hg19UCSC Ensembl
Innerchr3:130161191..130167927hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg386737
hg196737
hg186737
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963361
Supporting Variants
SamplesHGDP00778
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)nssv2294801
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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