A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14385512



Internal ID22299571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:76998822..77000182hg38UCSC Ensembl
chr9:79613738..79615098hg19UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg381361
hg191361
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234165
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14385512
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