A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3552136



Internal ID22421035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:91132651..91132651hg38UCSC Ensembl
chr9:93894933..93894933hg19UCSC Ensembl
Cytoband9q22.2
Allele length
AssemblyAllele length
hg38139
hg19139
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14429461, nssv14403735, nssv14458802
SamplesNA19240, HG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3552136
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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