A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17539511



Internal ID21863866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:38313430..38313430hg38UCSC Ensembl
chr5:38313532..38313532hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38302
hg19302
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6076515
Supporting Variants
Samples
Known GenesEGFLAM
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17539511
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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