A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14377335



Internal ID22294296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21260117..21260117hg38UCSC Ensembl
chr14:21728276..21728276hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38767
hg19767
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3523570
Supporting Variants
SamplesNA19240
Known GenesHNRNPC
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluY mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14377335
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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