A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17441263



Internal ID22499133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:65634103..65666561hg38UCSC Ensembl
chr6:66343996..66376454hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg3832459
hg1932459
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5888561
Supporting Variants
Samples
Known GenesEYS
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17441263
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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