A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5475833



Internal ID253464
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 StatusM
Merged Variants
Supporting Variantsnssv17004323
Samples
Known GenesKCND2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5475833
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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