A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2302437



Internal ID17867350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:160076458..160080716hg38UCSC Ensembl
Innerchr3:159794245..159798503hg19UCSC Ensembl
Innerchr3:161276939..161281197hg18UCSC Ensembl
Cytoband3q25.33
Allele length
AssemblyAllele length
hg384259
hg194259
hg184259
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963370
Supporting Variants
SamplesHGDP01284
Known GenesIL12A-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)nssv2302437
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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