A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946589



Internal ID18593439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:202891450..202893348hg38UCSC Ensembl
Innerchr1:202860578..202862476hg19UCSC Ensembl
Innerchr1:201127201..201129099hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381899
hg191899
hg181899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1814995, nssv1814994, nssv1814998, nssv1814996, nssv1814997, nssv1814993, nssv1815000, nssv1814992, nssv1814991, nssv1814999
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesKLHL12
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946589
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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