A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3283620



Internal ID22381970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:5549025..5549114hg38UCSC Ensembl
chr7:5588656..5588745hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14372886
SamplesNA19240
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)nsv3283620
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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