A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14394062



Internal ID22311919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50969106..50969106hg38UCSC Ensembl
chr19:51472362..51472362hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3557842
Supporting Variants
SamplesNA19240
Known GenesKLK6
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14394062
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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