A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17693147



Internal ID116813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:73093714..73095094hg38UCSC Ensembl
chr13:73667852..73669232hg19UCSC Ensembl
Cytoband13q22.1
Allele length
AssemblyAllele length
hg381381
hg191381
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5508469
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17693147
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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