A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17715881



Internal ID139547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:2634273..2733683hg38UCSC Ensembl
chr18:2634272..2733681hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg3899411
hg1999410
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5531868
Supporting Variants
Samples
Known GenesCBX3P2, SMCHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17715881
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