A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17422162



Internal ID22480032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:173022212..173030875hg38UCSC Ensembl
chr5:172449215..172457878hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg388664
hg198664
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5898620
Supporting Variants
Samples
Known GenesATP6V0E1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17422162
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