A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16908375



Internal ID6376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:93876121..93876121hg38UCSC Ensembl
chr1:94341677..94341677hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg382522
hg192522
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5546707
Supporting Variants
Samples
Known GenesDNTTIP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16908375
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.98811


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