A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16975899



Internal ID51329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:156839545..157055058hg38UCSC Ensembl
chr5:156266556..156482069hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg38215514
hg19215514
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5456725
Supporting Variants
Samples
Known GenesHAVCR1, PPP1R2P3, TIMD4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16975899
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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