A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233807



Internal ID22372850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:54154947..54155107hg38UCSC Ensembl
chr4:55021114..55021274hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38161
hg19161
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6607n152
Supporting Variantsnssv14398387, nssv14425318
SamplesNA19240, HG00514
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)nsv3233807
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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