A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3535247



Internal ID22404501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:87407647..87407647hg38UCSC Ensembl
chr6:88117365..88117365hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg382962
hg192962
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14401178
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3535247
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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