A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16965309



Internal ID44193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40421283..40423199hg38UCSC Ensembl
chr5:40421385..40423301hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg381917
hg191917
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5461153
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16965309
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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