A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17735523



Internal ID159189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:38514652..38514703hg38UCSC Ensembl
chr6:38482428..38482479hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5396337
Supporting Variants
Samples
Known GenesBTBD9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17735523
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000624


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