A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242524



Internal ID22375306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41144157..41145080hg38UCSC Ensembl
chr17:39300409..39301332hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38924
hg19924
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3561n152
Supporting Variantsnssv14375059
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)nsv3242524
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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