A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946920



Internal ID18247084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148554695..148555289hg38UCSC Ensembl
Innerchr1:148289717..148290311hg19UCSC Ensembl
Innerchr1:146656341..146656935hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38595
hg19595
hg18595
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2595432, nssv2595425, nssv2595371, nssv2595428, nssv2595375, nssv2595370, nssv2595367, nssv2595426, nssv2595429, nssv2595373, nssv2595430, nssv2595369, nssv2595372, nssv2595433, nssv2595376, nssv2595368, nssv2595434, nssv2595431, nssv2595374, nssv2595427
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)nsv946920
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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