A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3176870



Internal ID22334103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:109341787..109341837hg38UCSC Ensembl
chr5:108677488..108677538hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14411532
SamplesNA19240
Known GenesPJA2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3176870
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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