A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17715906



Internal ID139572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3072380..3101907hg38UCSC Ensembl
chr18:3072378..3101905hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3829528
hg1929528
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5522209
Supporting Variants
Samples
Known GenesMYOM1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17715906
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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