A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946486



Internal ID18593336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:167161347..167162832hg38UCSC Ensembl
Innerchr1:167130584..167132069hg19UCSC Ensembl
Innerchr1:165397208..165398693hg18UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg381486
hg191486
hg181486
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1804932, nssv1804938, nssv1804935, nssv1804939, nssv1804937, nssv1804934, nssv1804931, nssv1804940, nssv1804936, nssv1804933
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)nsv946486
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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