A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5434972



Internal ID213632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:17720825..17737120hg38UCSC Ensembl
chr4:17722448..17738743hg19UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg3816296
hg1916296
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16948305
Samples
Known GenesFAM184B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5434972
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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