A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246144



Internal ID22376337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:24473746..24473865hg38UCSC Ensembl
chr14:24942952..24943071hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14417128, nssv14444959
SamplesHG00733, 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)nsv3246144
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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