A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14399035



Internal ID22294372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:7262329..7267608hg38UCSC Ensembl
chr5:7262442..7267721hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg385280
hg195280
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3232096
Supporting Variants
SamplesNA19240
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)nssv14399035
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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