A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2304598



Internal ID17863874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:183884984..183892826hg38UCSC Ensembl
Innerchr3:183602772..183610614hg19UCSC Ensembl
Innerchr3:185085466..185093308hg18UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg387843
hg197843
hg187843
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979908
Supporting Variants
SamplesHGDP01284
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)nssv2304598
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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