A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17382216



Internal ID22440086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:49367181..49367280hg38UCSC Ensembl
chr18:46893551..46893650hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5931753
Supporting Variants
Samples
Known GenesDYM
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17382216
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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