A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv948082



Internal ID18594928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:79508068..79548153hg38UCSC Ensembl
Innerchr10:81267824..81307909hg19UCSC Ensembl
Innerchr10:80937830..80977915hg18UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg3840086
hg1940086
hg1840086
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1857944, nssv1857939, nssv1857948, nssv1857941, nssv1857943, nssv1857947, nssv1857940, nssv1857946, nssv1857942, nssv1857945
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesEIF5AL1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv948082
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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