A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2275853



Internal ID17519854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:17869660..17872445hg38UCSC Ensembl
Innerchr3:17911152..17913937hg19UCSC Ensembl
Innerchr3:17886156..17888941hg18UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg382786
hg192786
hg182786
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966993
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)nssv2275853
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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