A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14449800



Internal ID22245062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218711870..218711870hg38UCSC Ensembl
chr2:219576593..219576593hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3521192
Supporting Variants
SamplesHG00733
Known GenesTTLL4
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)nssv14449800
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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