A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945385



Internal ID18245550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:236818080..236824247hg38UCSC Ensembl
Innerchr1:236981380..236987547hg19UCSC Ensembl
Innerchr1:235048003..235054170hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg386168
hg196168
hg186168
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1823927, nssv1823928, nssv1823926, nssv1823925, nssv1823930, nssv1823921, nssv1823924, nssv1823929, nssv1823922, nssv1823923
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMTR
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945385
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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