A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946610



Internal ID18593460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:206207371..206252536hg38UCSC Ensembl
Innerchr1:206088816..206133959hg19UCSC Ensembl
Innerchr1:204255439..204300582hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3845166
hg1945144
hg1845144
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1815333, nssv1815330, nssv1815325, nssv1815326, nssv1815329, nssv1815331, nssv1815328, nssv1815332, nssv1815327, nssv1815324
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)nsv946610
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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