A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16901341



Internal ID1708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:31260624..31261103hg38UCSC Ensembl
chr1:31733471..31733950hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38480
hg19480
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5423220
Supporting Variants
Samples
Known GenesSNRNP40
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16901341
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001249


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