A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3553476



Internal ID22422357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:134992443..134992443hg38UCSC Ensembl
chr9:137884289..137884289hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14403853, nssv14457902
SamplesNA19240, HG00733
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)nsv3553476
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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