A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14455663



Internal ID22250046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144233308..144233308hg38UCSC Ensembl
chr8:145288211..145288211hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38208
hg19208
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3543833
Supporting Variants
SamplesHG00733
Known GenesMROH1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14455663
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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