A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17004323



Internal ID70522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:120415857..120423111hg38UCSC Ensembl
chr7:120055911..120063165hg19UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg387255
hg197255
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5475833
Supporting Variants
Samples
Known GenesKCND2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17004323
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