A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17044956



Internal ID97718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:43482399..43496794hg38UCSC Ensembl
chr11:43503949..43518344hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3814396
hg1914396
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5494597
Supporting Variants
Samples
Known GenesTTC17
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17044956
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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