A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16928074



Internal ID19423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:209448603..209451460hg38UCSC Ensembl
chr2:210313327..210316184hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg382858
hg192858
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5434360
Supporting Variants
Samples
Known GenesMAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16928074
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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