A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16279530



Internal ID20488748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:166889850..166889850hg38UCSC Ensembl
chr2:167746360..167746360hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg383149
hg193149
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4761351
Supporting Variants
Samples
Known GenesXIRP2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16279530
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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