A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16995363



Internal ID64335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:49197746..49197746hg38UCSC Ensembl
chr7:49237342..49237342hg19UCSC Ensembl
Cytoband7p12.2
Allele length
AssemblyAllele length
hg38305
hg19305
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5549489
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16995363
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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