A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6482304



Internal ID21139857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121562000..121563747hg38UCSC Ensembl
chr12:121999905..122001652hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381748
hg191748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17997770
Samples
Known GenesKDM2B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6482304
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