A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14365922



Internal ID22120290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121792101..121792154hg38UCSC Ensembl
chr12:122230007..122230060hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3530030
Supporting Variants
SamplesHG00512
Known GenesRHOF
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14365922
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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