A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690345



Internal ID114011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101104208..101110329hg38UCSC Ensembl
chr12:101497986..101504107hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg386122
hg196122
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5509454
Supporting Variants
Samples
Known GenesANO4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690345
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000469


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