A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946500



Internal ID18246664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:171269765..171274784hg38UCSC Ensembl
Innerchr1:171238904..171243923hg19UCSC Ensembl
Innerchr1:169505528..169510547hg18UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg385020
hg195020
hg185020
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1803763, nssv1803761, nssv1803762, nssv1803760, nssv1803754, nssv1803755, nssv1803756, nssv1803759, nssv1803758, nssv1803757
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFMO1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946500
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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