A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518244



Internal ID294641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75772381..75774923hg38UCSC Ensembl
chr17:73768462..73771004hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg382543
hg192543
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17714657
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518244
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