A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241722



Internal ID22375051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:80543916..80544126hg38UCSC Ensembl
chr10:82303672..82303882hg19UCSC Ensembl
Cytoband10q23.1
Allele length
AssemblyAllele length
hg38211
hg19211
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14441555, nssv14376190, nssv14415043
SamplesNA19240, HG00733, HG00514
Known GenesSH2D4B
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)nsv3241722
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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