A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5472443



Internal ID250152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:156942071..156944576hg38UCSC Ensembl
chr5:156369082..156371587hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg382506
hg192506
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16975911
Samples
Known GenesTIMD4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5472443
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