A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16905975



Internal ID4782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53963707..53963747hg38UCSC Ensembl
chr1:54429380..54429420hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38365
hg19365
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5558037
Supporting Variants
Samples
Known GenesLRRC42
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16905975
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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