A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14414802



Internal ID22150261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:46161937..46161937hg38UCSC Ensembl
chr11:46183488..46183488hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3548552
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14414802
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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