A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14429639



Internal ID22171429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:68171218..68171343hg38UCSC Ensembl
chr8:69083453..69083578hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3182049
Supporting Variants
SamplesHG00514
Known GenesPREX2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14429639
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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