A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17418648



Internal ID22476518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:129609573..129609986hg38UCSC Ensembl
chr6:129930718..129931131hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg38414
hg19414
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5906983
Supporting Variants
Samples
Known GenesARHGAP18
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17418648
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