A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14416711



Internal ID22152557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1620954..1620954hg38UCSC Ensembl
chr12:1730120..1730120hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38846
hg19846
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3521227
Supporting Variants
SamplesHG00514
Known GenesWNT5B
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)nssv14416711
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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