A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2292009



Internal ID17783120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:101591372..101594190hg38UCSC Ensembl
Innerchr3:101310216..101313034hg19UCSC Ensembl
Innerchr3:102792906..102795724hg18UCSC Ensembl
Cytoband3q12.3
Allele length
AssemblyAllele length
hg382819
hg192819
hg182819
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963346
Supporting Variants
SamplesHGDP00665
Known GenesPCNP
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)nssv2292009
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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