A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14389379



Internal ID22297995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:62562533..62563047hg38UCSC Ensembl
chr11:62330005..62330519hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg38515
hg19515
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211706
Supporting Variants
SamplesNA19240
Known GenesEEF1G
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14389379
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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