A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2167141



Internal ID17424513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:27389400..27394834hg38UCSC Ensembl
Innerchr2:27612267..27617701hg19UCSC Ensembl
Innerchr2:27465771..27471205hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg385435
hg195435
hg185435
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961021
Supporting Variants
SamplesHGDP00542
Known GenesFTH1P3, PPM1G
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)nssv2167141
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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