A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5493355



Internal ID270539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:98388916..98390976hg38UCSC Ensembl
chr7:98018228..98020288hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg382061
hg192061
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17002853
Samples
Known GenesBAIAP2L1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5493355
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