A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17728199



Internal ID151865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:26479625..26484453hg38UCSC Ensembl
chr22:26875591..26880419hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg384829
hg194829
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5540594
Supporting Variants
Samples
Known GenesHPS4, SRRD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17728199
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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