A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523570



Internal ID22392998
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 StatusM
Merged Variants
Supporting Variantsnssv14444937, nssv14377335
SamplesNA19240, HG00733
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)nsv3523570
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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