A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17689270



Internal ID112936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:76300499..76301738hg38UCSC Ensembl
chr12:76694279..76695518hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5504664
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17689270
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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