A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5456725



Internal ID234786
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 StatusM
Merged Variants
Supporting Variantsnssv16975899
Samples
Known GenesHAVCR1, PPP1R2P3, TIMD4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5456725
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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