A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17687334



Internal ID111000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:44121810..44121810hg38UCSC Ensembl
chr13:44695946..44695946hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38474
hg19474
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5536970
Supporting Variants
Samples
Known GenesSMIM2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17687334
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003601


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer