A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6347973



Internal ID21005526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:42347086..42350728hg38UCSC Ensembl
chr2:42574226..42577868hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg383643
hg193643
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18087878
Samples
Known GenesCOX7A2L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6347973
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