A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16948293



Internal ID32898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:17591371..17593827hg38UCSC Ensembl
chr4:17592994..17595450hg19UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg382457
hg192457
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5452170
Supporting Variants
Samples
Known GenesLAP3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16948293
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000624


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