A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17689015



Internal ID112681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:72149683..72149734hg38UCSC Ensembl
chr12:72543463..72543514hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg381638
hg191638
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5560618
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17689015
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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