A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3537577



Internal ID22406779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:99675638..99675638hg38UCSC Ensembl
chr7:99273261..99273261hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38183
hg19183
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14459821
SamplesHG00733
Known GenesCYP3A5
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)nsv3537577
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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