A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16914436



Internal ID10375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70217578..70217613hg38UCSC Ensembl
chr2:70444710..70444745hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38336
hg19336
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5543858
Supporting Variants
Samples
Known GenesTIA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16914436
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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