A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523274



Internal ID22392700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:74682360..74682360hg38UCSC Ensembl
chr1:75148044..75148044hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14438898, nssv14413202
SamplesHG00733, HG00514
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)nsv3523274
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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