A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2274381



Internal ID17405514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:12835778..12836278hg38UCSC Ensembl
Innerchr3:12877277..12877777hg19UCSC Ensembl
Innerchr3:12852277..12852777hg18UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979805
Supporting Variants
SamplesHGDP00521
Known GenesRPL32
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)nssv2274381
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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