A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440310



Internal ID218822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:29594755..29602074hg38UCSC Ensembl
chr2:29817621..29824940hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg387320
hg197320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16911092
Samples
Known GenesALK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440310
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