A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14448325



Internal ID22243801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24289441..24289755hg38UCSC Ensembl
chr12:24442375..24442689hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3186371
Supporting Variants
SamplesHG00733
Known GenesSOX5
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14448325
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