A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6462704



Internal ID21120257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93365526..93367324hg38UCSC Ensembl
chr12:93759302..93761100hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg381799
hg191799
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18005814
Samples
Known GenesLOC643339
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6462704
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