A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945360



Internal ID18245435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:229431230..229435274hg38UCSC Ensembl
Innerchr1:229566977..229571021hg19UCSC Ensembl
Innerchr1:227633600..227637644hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg384045
hg194045
hg184045
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1822969, nssv1822970, nssv1822966, nssv1822968, nssv1822964, nssv1822961, nssv1822962, nssv1822967, nssv1822963, nssv1822965
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesACTA1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945360
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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