A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2021111



Internal ID17750252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:43559147..43618896hg38UCSC Ensembl
Innerchr15:43851345..43911094hg19UCSC Ensembl
Innerchr15:41638637..41698386hg18UCSC Ensembl
Cytoband15q15.3
Allele length
AssemblyAllele length
hg3859750
hg1959750
hg1859750
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974568
Supporting Variants
SamplesHGDP00521
Known GenesCKMT1B, PPIP5K1, RNU6-28P, STRC
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)nssv2021111
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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