A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3235708



Internal ID22373370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:233724586..233724692hg38UCSC Ensembl
chr1:233860332..233860438hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14410081
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsDeletion variant involving LTR satellite DNA
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3235708
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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