A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16911085



Internal ID8162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:29508391..29514352hg38UCSC Ensembl
chr2:29731257..29737218hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg385962
hg195962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5437617
Supporting Variants
Samples
Known GenesALK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16911085
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001249


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