A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6354176



Internal ID21011729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70270543..70272457hg38UCSC Ensembl
chr2:70497675..70499589hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg381915
hg191915
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18089550
Samples
Known GenesPCYOX1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6354176
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