A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17002110



Internal ID69004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:91583997..91590377hg38UCSC Ensembl
chr7:91213312..91219692hg19UCSC Ensembl
Cytoband7q21.2
Allele length
AssemblyAllele length
hg386381
hg196381
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5479785
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17002110
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