A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6345987



Internal ID21003540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:60468201..60473000hg38UCSC Ensembl
chr2:60695336..60700135hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg384800
hg194800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18090596
Samples
Known GenesBCL11A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6345987
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