A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16902093



Internal ID2192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:41198517..41198568hg38UCSC Ensembl
chr1:41664189..41664240hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5554316
Supporting Variants
Samples
Known GenesSCMH1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16902093
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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