A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983589



Internal ID18618782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:52376781..52377541hg38UCSC Ensembl
Innerchr13:52950916..52951676hg19UCSC Ensembl
Innerchr13:51848917..51849677hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38761
hg19761
hg18761
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1965917, nssv1965918, nssv1965915, nssv1965919, nssv1965913, nssv1965920, nssv1965916, nssv1965921, nssv1965914, nssv1965922
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTHSD1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983589
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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