A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16948317



Internal ID32915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:17850517..17853382hg38UCSC Ensembl
chr4:17852140..17855005hg19UCSC Ensembl
Cytoband4p15.31
Allele length
AssemblyAllele length
hg382866
hg192866
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5434080
Supporting Variants
Samples
Known GenesLCORL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16948317
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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