A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5537647



Internal ID312890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:143119913..143119929hg38UCSC Ensembl
chr3:142838755..142838771hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg381102
hg191102
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16940383
Samples
Known GenesCHST2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5537647
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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