A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5437000



Internal ID215603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:161180543..161180593hg38UCSC Ensembl
chr2:162037054..162037104hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16920224
Samples
Known GenesTANK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5437000
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer