A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946418



Internal ID18593268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:155583606..155587816hg38UCSC Ensembl
Innerchr1:155553397..155557607hg19UCSC Ensembl
Innerchr1:153820021..153824231hg18UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg384211
hg194211
hg184211
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1799480, nssv1799485, nssv1799481, nssv1799487, nssv1799484, nssv1800105, nssv1800104, nssv1799482, nssv1799483, nssv1799486
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)nsv946418
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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