A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3521708



Internal ID22391124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:118443247..118443247hg38UCSC Ensembl
chr7:118083301..118083301hg19UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14428155, nssv14401017, nssv14454321
SamplesNA19240, HG00733, 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)nsv3521708
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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