A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243238



Internal ID22375513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:7262345..7267639hg38UCSC Ensembl
chr5:7262458..7267752hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg385295
hg195295
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7180n152
Supporting Variantsnssv14425077
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion variant involving LTR satellite DNA
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243238
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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