A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16890548



Internal ID167875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149377587..149397743hg38UCSC Ensembl
chr1:145194741..145215972hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3820157
hg1921232
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5428243
Supporting Variants
Samples
Known GenesLOC100288142, NBPF9, NOTCH2NL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16890548
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.021691


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