A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17048598



Internal ID100273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:78179997..78180048hg38UCSC Ensembl
chr11:77891043..77891094hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg38263
hg19263
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5406484
Supporting Variants
Samples
Known GenesKCTD21
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17048598
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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