A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17716386



Internal ID140052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:13673861..13676257hg38UCSC Ensembl
chr18:13673860..13676256hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg382397
hg192397
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5514035
Supporting Variants
Samples
Known GenesFAM210A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17716386
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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