A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14414593



Internal ID22150025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:43181881..43181881hg38UCSC Ensembl
chr10:43677329..43677329hg19UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg381436
hg191436
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3519730
Supporting Variants
SamplesHG00514
Known GenesCSGALNACT2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluS mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14414593
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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