A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18080292



Internal ID20647332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:167204850..167205306hg38UCSC Ensembl
chr2:168061360..168061816hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38457
hg19457
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6345399
Supporting Variants
Samples
Known GenesXIRP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18080292
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00032


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