A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243822



Internal ID22375684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:54993990..54994150hg38UCSC Ensembl
chr4:55860157..55860317hg19UCSC 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 Variantsdgv6611n152
Supporting Variantsnssv14398392, nssv14451770
SamplesNA19240, HG00733
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)nsv3243822
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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