A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17053402



Internal ID103448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:124929697..124930026hg38UCSC Ensembl
chr11:124799593..124799922hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5499659
Supporting Variants
Samples
Known GenesHEPACAM
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17053402
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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