A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2196536



Internal ID17728010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:109250747..109252365hg38UCSC Ensembl
Innerchr2:109867203..109868821hg19UCSC Ensembl
Innerchr2:109233635..109235253hg18UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg381619
hg191619
hg181619
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963688
Supporting Variants
SamplesHGDP00456
Known GenesSH3RF3
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)nssv2196536
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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