A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16901840



Internal ID2022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46207818..46208140hg38UCSC Ensembl
chr1:46673490..46673812hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5415909
Supporting Variants
Samples
Known GenesLURAP1, POMGNT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16901840
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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