A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5531104



Internal ID307067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:10322737..10328886hg38UCSC Ensembl
chr17:10226054..10232203hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg386150
hg196150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711384
Samples
Known GenesMYH13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5531104
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