A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16902243



Internal ID2295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:19671824..19671875hg38UCSC Ensembl
chr1:19998317..19998368hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5556697
Supporting Variants
Samples
Known GenesHTR6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16902243
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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