A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17726518



Internal ID150184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:29348647..29354066hg38UCSC Ensembl
chr21:30720968..30726387hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg385420
hg195420
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5534957
Supporting Variants
Samples
Known GenesBACH1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17726518
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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