A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2292386



Internal ID17800513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:123978403..123980135hg38UCSC Ensembl
Innerchr3:123697250..123698982hg19UCSC Ensembl
Innerchr3:125179940..125181672hg18UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg381733
hg191733
hg181733
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965206
Supporting Variants
SamplesHGDP00778
Known GenesROPN1
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)nssv2292386
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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