A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16964295



Internal ID43505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:39423337..39423385hg38UCSC Ensembl
chr5:39423439..39423487hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5539313
Supporting Variants
Samples
Known GenesDAB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16964295
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.81689


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