A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974091



Internal ID18262618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:52655915..52658815hg38UCSC Ensembl
Innerchr13:53230050..53232950hg19UCSC Ensembl
Innerchr13:52128051..52130951hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg382901
hg192901
hg182901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1964235, nssv1964234, nssv1964227, nssv1964236, nssv1964230, nssv1964228, nssv1964233, nssv1964232, nssv1964231, nssv1964229
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)nsv974091
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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