A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2286595



Internal ID17820492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:77703138..77704014hg38UCSC Ensembl
Innerchr3:77752289..77753165hg19UCSC Ensembl
Innerchr3:77834979..77835855hg18UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38877
hg19877
hg18877
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963336
Supporting Variants
SamplesHGDP00927
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)nssv2286595
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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