A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945295



Internal ID18592146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:220109061..220110916hg38UCSC Ensembl
Innerchr1:220282403..220284258hg19UCSC Ensembl
Innerchr1:218349026..218350881hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg381856
hg191856
hg181856
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1818129, nssv1818124, nssv1818132, nssv1818133, nssv1818130, nssv1818126, nssv1818131, nssv1818125, nssv1818128, nssv1818127
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesIARS2, RNU5F-1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945295
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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