A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6480701



Internal ID21138254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:117836292..117838048hg38UCSC Ensembl
chr12:118274097..118275853hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg381757
hg191757
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17997213
Samples
Known GenesKSR2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6480701
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