A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16974733



Internal ID50534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149327063..149327300hg38UCSC Ensembl
chr5:148706626..148706863hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38238
hg19238
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5468533
Supporting Variants
Samples
Known GenesAFAP1L1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16974733
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.072276


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