A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964849



Internal ID18600085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:50501549..50526594hg38UCSC Ensembl
Innerchr5:49797383..49822428hg19UCSC Ensembl
Innerchr5:49833140..49858185hg18UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg3825046
hg1925046
hg1825046
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2354912, nssv2354917, nssv2354919, nssv2354918, nssv2354911, nssv2354913, nssv2354915, nssv2354914, nssv2354916, nssv2354920
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)nsv964849
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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