A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16925536



Internal ID17771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:154179892..154298903hg38UCSC Ensembl
chr2:155036405..155155416hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38119012
hg19119012
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6139157
Supporting Variants
Samples
Known GenesGALNT13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16925536
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000625


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