A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16940853



Internal ID27937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:149660790..149660841hg38UCSC Ensembl
chr3:149378577..149378628hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5555427
Supporting Variants
Samples
Known GenesWWTR1, WWTR1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16940853
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000624


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