A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2270754



Internal ID17752232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:9988235..9993448hg38UCSC Ensembl
Innerchr3:10029919..10035132hg19UCSC Ensembl
Innerchr3:10004919..10010132hg18UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg385214
hg195214
hg185214
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965142
Supporting Variants
SamplesHGDP00521
Known GenesEMC3-AS1
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)nssv2270754
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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