A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5544561



Internal ID318693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:173203011..173203053hg38UCSC Ensembl
chr1:173172150..173172192hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg38159
hg19159
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891672
Samples
Known GenesTNFSF4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5544561
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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