A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946222



Internal ID18246386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:144914153..145023143hg38UCSC Ensembl
Innerchr1:143974159..144095783hg19UCSC Ensembl
Innerchr1:142685514..142807280hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38108991
hg19121625
hg18121767
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1786766, nssv1786767, nssv1786764, nssv1786771, nssv1786770, nssv1786772, nssv1786768, nssv1786765, nssv1786769, nssv1786763
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946222
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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