A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17554244



Internal ID21878599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:100506603..100506603hg38UCSC Ensembl
chr3:100225447..100225447hg19UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38304
hg19304
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6069258
Supporting Variants
Samples
Known GenesTMEM45A
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17554244
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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