A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16937144



Internal ID25472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:101338504..101338555hg38UCSC Ensembl
chr3:101057348..101057399hg19UCSC Ensembl
Cytoband3q12.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5407650
Supporting Variants
Samples
Known GenesSENP7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16937144
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000624


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