A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2270857



Internal ID17851842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:9993448..9996549hg38UCSC Ensembl
Innerchr3:10035132..10038233hg19UCSC Ensembl
Innerchr3:10010132..10013233hg18UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg383102
hg193102
hg183102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv966988
Supporting Variants
SamplesHGDP01029
Known GenesEMC3-AS1
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)nssv2270857
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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