A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242011



Internal ID22375139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:32648832..32649144hg38UCSC Ensembl
chr17:30975850..30976162hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14419476
SamplesHG00514
Known GenesMYO1D
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)nsv3242011
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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