A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16950042



Internal ID34044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:52675609..52682755hg38UCSC Ensembl
chr4:53541776..53548922hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg387147
hg197147
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5459860
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16950042
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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