A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17997769



Internal ID20564809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121546706..121547855hg38UCSC Ensembl
chr12:121984611..121985760hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381150
hg191150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6489162
Supporting Variants
Samples
Known GenesKDM2B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17997769
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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