A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16889607



Internal ID167167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:114512949..114513245hg38UCSC Ensembl
chr1:115055570..115055866hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38297
hg19297
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5422667
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16889607
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000781


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