A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3172368



Internal ID22331770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:81892216..81892697hg38UCSC Ensembl
chr5:81188035..81188516hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38482
hg19482
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14426650
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3172368
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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