A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16973696



Internal ID49851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:111567807..111578050hg38UCSC Ensembl
chr5:110903505..110913747hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg3810244
hg1910243
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6141370
Supporting Variants
Samples
Known GenesSTARD4-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16973696
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.027171


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