A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14376005



Internal ID22321788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:59672311..59672371hg38UCSC Ensembl
chr11:59439784..59439844hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3287054
Supporting Variants
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)nssv14376005
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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