A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2021741



Internal ID17421455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:43628763..43648053hg38UCSC Ensembl
Innerchr15:43920961..43940251hg19UCSC Ensembl
Innerchr15:41708253..41727543hg18UCSC Ensembl
Cytoband15q15.3
Allele length
AssemblyAllele length
hg3819291
hg1919291
hg1819291
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974569
Supporting Variants
SamplesHGDP00542
Known GenesCATSPER2
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)nssv2021741
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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