A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14409657



Internal ID22292964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:14308656..14308740hg38UCSC Ensembl
chr5:14308765..14308849hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3281477
Supporting Variants
SamplesNA19240
Known GenesTRIO
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14409657
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