A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17735535



Internal ID159201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:63720880..63720931hg38UCSC Ensembl
chr6:64430776..64430827hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg38267
hg19267
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5401473
Supporting Variants
Samples
Known GenesEYS
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17735535
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