A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5507248



Internal ID283977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:17475566..17475765hg38UCSC Ensembl
chr12:17628500..17628699hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38200
hg19200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17053868
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5507248
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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