A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2285048



Internal ID17883668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:68635767..68637900hg38UCSC Ensembl
Innerchr3:68684918..68687051hg19UCSC Ensembl
Innerchr3:68767608..68769741hg18UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg382134
hg192134
hg182134
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967018
Supporting Variants
SamplesHGDP01307
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)nssv2285048
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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