A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3532098



Internal ID22401434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:157411162..157411162hg38UCSC Ensembl
chr7:157203856..157203856hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14401563
SamplesNA19240
Known GenesDNAJB6
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3532098
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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