A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5457547



Internal ID235588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:177619324..177765324hg38UCSC Ensembl
chr5:177046325..177192325hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38146001
hg19146001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16976820
Samples
Known GenesFAM153A, LOC202181
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5457547
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer