A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962873



Internal ID18598115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:32031610..32036363hg38UCSC Ensembl
Innerchr18:29611573..29616326hg19UCSC Ensembl
Innerchr18:27865571..27870324hg18UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg384754
hg194754
hg184754
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2121389, nssv2121390, nssv2121391, nssv2121384, nssv2121392, nssv2121385, nssv2121386, nssv2121393, nssv2121388, nssv2121387
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRNF125
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962873
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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