A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17611119



Internal ID21803166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:47983632..47986665hg38UCSC Ensembl
chr13:48557767..48560800hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg383034
hg193034
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6021335
Supporting Variants
Samples
Known GenesSUCLA2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17611119
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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