A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16956498



Internal ID38303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:143661381..143667381hg38UCSC Ensembl
chr4:144582534..144588534hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5457758
Supporting Variants
Samples
Known GenesFREM3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16956498
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001249


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