A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17720663



Internal ID144329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:4187131..4187196hg38UCSC Ensembl
chr19:4187128..4187193hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5516474
Supporting Variants
Samples
Known GenesANKRD24
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17720663
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