A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945277



Internal ID18592128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:211204047..211209536hg38UCSC Ensembl
Innerchr1:211377389..211382878hg19UCSC Ensembl
Innerchr1:209444012..209449501hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg385490
hg195490
hg185490
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1817297, nssv1817295, nssv1817294, nssv1817292, nssv1817291, nssv1817293, nssv1817296, nssv1817288, nssv1817289, nssv1817290
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)nsv945277
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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