A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6348256



Internal ID21005809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197734801..197737200hg38UCSC Ensembl
chr2:198599525..198601924hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg382400
hg192400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4250n223
Supporting Variantsnssv18084235
Samples
Known GenesBOLL
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6348256
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