A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17052736



Internal ID103004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4575623..4575656hg38UCSC Ensembl
chr12:4684789..4684822hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5553720
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17052736
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.006244


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer