A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16957148



Internal ID38745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:154337738..154394573hg38UCSC Ensembl
chr4:155258890..155315725hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg3856836
hg1956836
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5471499
Supporting Variants
Samples
Known GenesDCHS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16957148
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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