A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194978



Internal ID22345225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:23700288..23700352hg38UCSC Ensembl
chr14:24169497..24169561hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14377251, nssv14444947, nssv14417123
SamplesNA19240, HG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194978
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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