A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17685970



Internal ID109636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:20653605..20653608hg38UCSC Ensembl
chr13:21227744..21227747hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38237
hg19237
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5421823
Supporting Variants
Samples
Known GenesIFT88
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17685970
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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