A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983571



Internal ID18618764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:29039547..29045675hg38UCSC Ensembl
Innerchr13:29613684..29619812hg19UCSC Ensembl
Innerchr13:28511684..28517812hg18UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg386129
hg196129
hg186129
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1958402, nssv1958403, nssv1958410, nssv1958405, nssv1958407, nssv1958409, nssv1958406, nssv1958408, nssv1958404, nssv1958401
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMTUS2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983571
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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