A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3521604



Internal ID22391020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:156220543..156220543hg38UCSC Ensembl
chr1:156190334..156190334hg19UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14391192
SamplesNA19240
Known GenesPMF1, PMF1-BGLAP
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)nsv3521604
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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