A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17055007



Internal ID104506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:5850423..5851618hg38UCSC Ensembl
chr12:5959589..5960784hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381196
hg191196
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5495383
Supporting Variants
Samples
Known GenesANO2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17055007
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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