A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16901851



Internal ID2031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46294518..46294591hg38UCSC Ensembl
chr1:46760190..46760263hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5423108
Supporting Variants
Samples
Known GenesLRRC41
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16901851
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000624


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