A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16896891



Internal ID172082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230781561..230783454hg38UCSC Ensembl
chr1:230917307..230919200hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg381894
hg191894
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5440782
Supporting Variants
Samples
Known GenesCAPN9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16896891
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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