A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5492400



Internal ID269614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124618049..124622217hg38UCSC Ensembl
chr8:125630290..125634458hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg384169
hg194169
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17017138
Samples
Known GenesMTSS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5492400
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