A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17382690



Internal ID22440560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3217813..3218886hg38UCSC Ensembl
chr18:3217811..3218884hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg381074
hg191074
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5936877
Supporting Variants
Samples
Known GenesMYOM1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17382690
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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