A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974569



Internal ID18263094
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 StatusM
Merged Variants
Supporting Variantsnssv2021738, nssv2021741, nssv2021743, nssv2021740, nssv2021737, nssv2021736, nssv2021739, nssv2021742, nssv2021735, nssv2021744
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCATSPER2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv974569
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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