A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231811



Internal ID22372338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:88683918..88684256hg38UCSC Ensembl
chr2:88983436..88983774hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38339
hg19339
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14420628
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion variant involving MER satellite DNA
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231811
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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