A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968976



Internal ID18604204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:112891766..112893513hg38UCSC Ensembl
Innerchr5:112227463..112229210hg19UCSC Ensembl
Innerchr5:112255362..112257109hg18UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg381748
hg191748
hg181748
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2372240, nssv2372237, nssv2372232, nssv2372238, nssv2372233, nssv2372231, nssv2372239, nssv2372234, nssv2372235, nssv2372236
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesREEP5, SRP19
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968976
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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