A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3185043



Internal ID22338475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238638056..238639446hg38UCSC Ensembl
chr2:239546697..239548087hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381391
hg191391
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5079n152
Supporting Variantsnssv14422381
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)nsv3185043
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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