A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2273192



Internal ID17849004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:12070458..12075699hg38UCSC Ensembl
Innerchr3:12111958..12117199hg19UCSC Ensembl
Innerchr3:12086958..12092199hg18UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg385242
hg195242
hg185242
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979803
Supporting Variants
SamplesHGDP01029
Known GenesSYN2
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)nssv2273192
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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