A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16935964



Internal ID24685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:85046922..85046973hg38UCSC Ensembl
chr3:85096073..85096124hg19UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg38246
hg19246
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5402402
Supporting Variants
Samples
Known GenesCADM2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16935964
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003122


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