A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983569



Internal ID18618762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:27458954..27460257hg38UCSC Ensembl
Innerchr13:28033091..28034394hg19UCSC Ensembl
Innerchr13:26931091..26932394hg18UCSC Ensembl
Cytoband13q12.2
Allele length
AssemblyAllele length
hg381304
hg191304
hg181304
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1958214, nssv1958208, nssv1958205, nssv1958207, nssv1958212, nssv1958211, nssv1958213, nssv1958210, nssv1958209, nssv1958206
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)nsv983569
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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