A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3175207



Internal ID22333233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:76984512..76984562hg38UCSC Ensembl
chr5:76280337..76280387hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14411416
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3175207
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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