A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946543



Internal ID18593393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:187563072..187564201hg38UCSC Ensembl
Innerchr1:187532204..187533333hg19UCSC Ensembl
Innerchr1:185798827..185799956hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg381130
hg191130
hg181130
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1810563, nssv1810559, nssv1810565, nssv1810566, nssv1810564, nssv1810562, nssv1810560, nssv1810558, nssv1810567, nssv1810561
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)nsv946543
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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