A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5454472



Internal ID232571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:136293282..136304788hg38UCSC Ensembl
chr5:135628970..135640476hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3811507
hg1911507
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16974420
Samples
Known GenesTRPC7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5454472
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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