A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3172096



Internal ID22331638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:14955096..14958264hg38UCSC Ensembl
chr4:14956720..14959888hg19UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg383169
hg193169
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14397240, nssv14424216
SamplesNA19240, HG00514
Known GenesCPEB2-AS1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3172096
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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