A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17001051



Internal ID68280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75058139..75077492hg38UCSC Ensembl
chr7:74473951..74493306hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3819354
hg1919356
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5474250
Supporting Variants
Samples
Known GenesWBSCR16
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17001051
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