A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3183676



Internal ID22337749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:73644242..73644349hg38UCSC Ensembl
chr5:72940067..72940174hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14425149
SamplesHG00514
Known GenesARHGEF28
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3183676
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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