A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14372886



Internal ID22305525
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 StatusS
Merged Variantsnsv3283620
Supporting Variants
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)nssv14372886
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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