A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14417121



Internal ID22153184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:23280702..23280702hg38UCSC Ensembl
chr14:23749911..23749911hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38346
hg19346
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3544700
Supporting Variants
SamplesHG00514
Known GenesHOMEZ
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14417121
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