A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14309367



Internal ID22308059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:123375924..123376313hg38UCSC Ensembl
chr3:123094771..123095160hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38390
hg19390
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3525148
Supporting Variants
SamplesNA19240
Known GenesADCY5
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14309367
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