A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3171045



Internal ID22331070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:54635030..54635566hg38UCSC Ensembl
chr5:53930860..53931396hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38537
hg19537
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14467035
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3171045
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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