A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440695



Internal ID219196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:207109585..207114489hg38UCSC Ensembl
chr2:207974309..207979213hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg384905
hg194905
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16924737
Samples
Known GenesKLF7, MIR2355
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440695
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