A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16996698



Internal ID65286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:56342453..56635465hg38UCSC Ensembl
chr7:56410146..56703158hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38293013
hg19293013
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5478344
Supporting Variants
Samples
Known GenesDKFZp434L192, LOC100240728, LOC101928401, LOC650226
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16996698
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