A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17715224



Internal ID138890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3523101..3523609hg38UCSC Ensembl
chr18:3523099..3523607hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38509
hg19509
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5520333
Supporting Variants
Samples
Known GenesDLGAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17715224
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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