A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17042135



Internal ID95797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:2994000..3064000hg38UCSC Ensembl
chr11:3015230..3085230hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3870001
hg1970001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143476
Supporting Variants
Samples
Known GenesCARS
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17042135
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000313


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