A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14426065



Internal ID22166266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:88992136..88992136hg38UCSC Ensembl
chr6:89701855..89701855hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3538255
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14426065
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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