A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14441486



Internal ID22237870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:11279385..11279385hg38UCSC Ensembl
chr10:11321348..11321348hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg381424
hg191424
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3550226
Supporting Variants
SamplesHG00733
Known GenesCELF2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14441486
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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