A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17415424



Internal ID22473294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:117449922..117452798hg38UCSC Ensembl
chr5:116785618..116788494hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg382877
hg192877
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5893434
Supporting Variants
Samples
Known GenesLINC00992
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17415424
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