A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17687634



Internal ID111300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49421119..49421170hg38UCSC Ensembl
chr13:49995255..49995306hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5420913
Supporting Variants
Samples
Known GenesCAB39L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17687634
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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