A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17689244



Internal ID112910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:75778607..75778634hg38UCSC Ensembl
chr12:76172387..76172414hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5538917
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17689244
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.067301


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