A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5546707



Internal ID320624
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 StatusM
Merged Variants
Supporting Variantsnssv16908375
Samples
Known GenesDNTTIP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5546707
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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