A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5477274



Internal ID254862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:43255124..43255184hg38UCSC Ensembl
chr7:43294723..43294783hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16997264
Samples
Known GenesHECW1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5477274
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