A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16965086



Internal ID44037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:21150674..21475029hg38UCSC Ensembl
chr5:21150783..21475138hg19UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38324356
hg19324356
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5467246
Supporting Variants
Samples
Known GenesGUSBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16965086
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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