A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5524797



Internal ID300987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42508848..42508989hg38UCSC Ensembl
chr17:40660866..40661007hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38142
hg19142
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724516
Samples
Known GenesATP6V0A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5524797
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