A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17688771



Internal ID112437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:67377263..67377314hg38UCSC Ensembl
chr12:67771043..67771094hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg382738
hg192738
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5561873
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17688771
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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