A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5538611



Internal ID313677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134721397..134721432hg38UCSC Ensembl
chr5:134057087..134057122hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16975065
Samples
Known GenesSEC24A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5538611
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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