A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16902250



Internal ID2301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:19769885..19769885hg38UCSC Ensembl
chr1:20096378..20096378hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg381426
hg191426
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5545410
Supporting Variants
Samples
Known GenesTMCO4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16902250
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.082541


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