A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17053514



Internal ID103521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:126446336..126446351hg38UCSC Ensembl
chr11:126316231..126316246hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5552639
Supporting Variants
Samples
Known GenesKIRREL3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17053514
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.051064


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