A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14414312



Internal ID22149712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:3214914..3214914hg38UCSC Ensembl
chr11:3236144..3236144hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3548906
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)nssv14414312
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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