A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5561873



Internal ID334840
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 StatusM
Merged Variants
Supporting Variantsnssv17688771
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5561873
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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