A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974092



Internal ID18609305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:52687760..52688523hg38UCSC Ensembl
Innerchr13:53261895..53262658hg19UCSC Ensembl
Innerchr13:52159896..52160659hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38764
hg19764
hg18764
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1964067, nssv1964324, nssv1964068, nssv1964070, nssv1964071, nssv1964325, nssv1964326, nssv1964327, nssv1964069, nssv1964328
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSUGT1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv974092
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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