A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16890054



Internal ID167506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:145458793..145464193hg38UCSC Ensembl
chr1:145962426..145967824hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg385401
hg195399
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5417708
Supporting Variants
Samples
Known GenesLOC100288142, LOC101929780, NBPF10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16890054
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00212


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