A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946454



Internal ID18593304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:160313894..160318310hg38UCSC Ensembl
Innerchr1:160283684..160288100hg19UCSC Ensembl
Innerchr1:158550308..158554724hg18UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg384417
hg194417
hg184417
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1804316, nssv1804315, nssv1804311, nssv1804308, nssv1804313, nssv1804312, nssv1804309, nssv1804307, nssv1804310, nssv1804314
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCOPA, SUMO1P3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946454
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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