A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14401524



Internal ID22310160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:155366738..155366738hg38UCSC Ensembl
chr7:155159433..155159433hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3558507
Supporting Variants
SamplesNA19240
Known GenesBLACE
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14401524
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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