A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14415940



Internal ID22151529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:1425610..1433642hg38UCSC Ensembl
chr11:1446840..1454872hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg388033
hg198033
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228157
Supporting Variants
SamplesHG00514
Known GenesBRSK2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14415940
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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