A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14417266



Internal ID22153394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:65364536..65371884hg38UCSC Ensembl
chr11:65132007..65139355hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg387349
hg197349
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3286631
Supporting Variants
SamplesHG00514
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)nssv14417266
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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