A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6391227



Internal ID21048780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:33991378..33993705hg38UCSC Ensembl
chr5:33991483..33993810hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg382328
hg192328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18129697
Samples
Known GenesAMACR, C1QTNF3-AMACR
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6391227
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