A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16927190



Internal ID18835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241235910..241235972hg38UCSC Ensembl
chr2:242175325..242175387hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5447496
Supporting Variants
Samples
Known GenesHDLBP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16927190
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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