A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17000571



Internal ID67959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:103226000..103231000hg38UCSC Ensembl
chr7:102866447..102871447hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg385001
hg195001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5488901
Supporting Variants
Samples
Known GenesDPY19L2P2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17000571
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer