A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946866



Internal ID18247030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148531609..148533293hg38UCSC Ensembl
Innerchr1:148250476..148252237hg19UCSC Ensembl
Innerchr1:146617100..146618861hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg381685
hg191762
hg181762
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2593851, nssv2593853, nssv2593857, nssv2593852, nssv2593848, nssv2593850, nssv2593856, nssv2593849, nssv2593854, nssv2593855
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC101929780, NBPF10, NBPF14, NBPF8, NBPF9
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946866
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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