A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3238989



Internal ID22374303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:139594435..139601693hg38UCSC Ensembl
chr8:140606678..140613936hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg387259
hg197259
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14459151
SamplesHG00733
Known GenesKCNK9
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)nsv3238989
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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