A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2302854



Internal ID17798799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:172828749..172831063hg38UCSC Ensembl
Innerchr3:172546539..172548853hg19UCSC Ensembl
Innerchr3:174029233..174031547hg18UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg382315
hg192315
hg182315
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979902
Supporting Variants
SamplesHGDP00778
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)nssv2302854
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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