A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16956540



Internal ID38333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:145493690..145493706hg38UCSC Ensembl
chr4:146414842..146414858hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg382458
hg192458
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5560336
Supporting Variants
Samples
Known GenesSMAD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16956540
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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