A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17604679



Internal ID21796726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:48427584..48427637hg38UCSC Ensembl
chr13:49001720..49001773hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6022673
Supporting Variants
Samples
Known GenesLPAR6, RB1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17604679
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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