A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6479088



Internal ID21136641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121522408..121522741hg38UCSC Ensembl
chr12:121960211..121960544hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17997766
Samples
Known GenesKDM2B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6479088
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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