A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946450



Internal ID18593300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:159668243..159668842hg38UCSC Ensembl
Innerchr1:159638033..159638632hg19UCSC Ensembl
Innerchr1:157904657..157905256hg18UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg38600
hg19600
hg18600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1803308, nssv1803311, nssv1803305, nssv1803304, nssv1803302, nssv1803307, nssv1803306, nssv1803309, nssv1803310, nssv1803303
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946450
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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