A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17604922



Internal ID21796969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:106722925..106729785hg38UCSC Ensembl
chr12:107116703..107123563hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg386861
hg196861
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6022953
Supporting Variants
Samples
Known GenesLOC100287944, RFX4
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17604922
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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