A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16974729



Internal ID50530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149169089..149169125hg38UCSC Ensembl
chr5:148548652..148548688hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5543805
Supporting Variants
Samples
Known GenesABLIM3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16974729
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.126756


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