A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946540



Internal ID18593390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:185221973..185231245hg38UCSC Ensembl
Innerchr1:185191105..185200377hg19UCSC Ensembl
Innerchr1:183457728..183467000hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg389273
hg199273
hg189273
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1809479, nssv1809484, nssv1809481, nssv1809487, nssv1809486, nssv1809483, nssv1809482, nssv1809485, nssv1809480, nssv1809478
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSWT1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946540
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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