A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14394732



Internal ID22324477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:57834865..57835446hg38UCSC Ensembl
chr12:58228648..58229229hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38582
hg19582
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217206
Supporting Variants
SamplesNA19240
Known GenesCTDSP2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14394732
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