A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16956497



Internal ID38302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:143652148..143652461hg38UCSC Ensembl
chr4:144573301..144573614hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5470071
Supporting Variants
Samples
Known GenesFREM3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16956497
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.507181


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