A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16917305



Internal ID12289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:84947286..84948660hg38UCSC Ensembl
chr2:85174409..85175783hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg381375
hg191375
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5439726
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16917305
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001093


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