A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17034645



Internal ID90810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:49998234..50071500hg38UCSC Ensembl
chr10:51757994..51831260hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg3873267
hg1973267
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5478460
Supporting Variants
Samples
Known GenesAGAP6, FAM21A, FLJ31813
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17034645
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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