A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946546



Internal ID18593396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:191144810..191147425hg38UCSC Ensembl
Innerchr1:191113940..191116555hg19UCSC Ensembl
Innerchr1:189380563..189383178hg18UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg382616
hg192616
hg182616
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1808185, nssv1808184, nssv1808187, nssv1808188, nssv1808186, nssv1808180, nssv1808189, nssv1808181, nssv1808182, nssv1808183
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)nsv946546
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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