A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6493032



Internal ID21150585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:125120156..125126203hg38UCSC Ensembl
chr12:125604702..125610749hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg386048
hg196048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17999088
Samples
Known GenesAACS
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6493032
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