A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2294585



Internal ID17788482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:120499002..120500680hg38UCSC Ensembl
Innerchr3:120217849..120219527hg19UCSC Ensembl
Innerchr3:121700539..121702217hg18UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg381679
hg191679
hg181679
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965202
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)nssv2294585
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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