A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17715911



Internal ID139577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3123839..3124291hg38UCSC Ensembl
chr18:3123837..3124289hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38453
hg19453
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6144869
Supporting Variants
Samples
Known GenesMYOM1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17715911
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.011555


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