A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14441200



Internal ID22230206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:9170365..9170365hg38UCSC Ensembl
chr1:9230424..9230424hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3521044
Supporting Variants
SamplesHG00733
Known Genes
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)nssv14441200
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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