A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16890030



Internal ID167484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:145249587..145270587hg38UCSC Ensembl
chr1:144371703..144393126hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3821001
hg1921424
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5426072
Supporting Variants
Samples
Known GenesLOC100288142
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16890030
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001825


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