A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2272285



Internal ID17888270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:18905298..18910787hg38UCSC Ensembl
Innerchr3:18946790..18952279hg19UCSC Ensembl
Innerchr3:18921794..18927283hg18UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg385490
hg195490
hg185490
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv979808
Supporting Variants
SamplesHGDP01307
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2272285
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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