A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3178688



Internal ID22335148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:23205463..23205597hg38UCSC Ensembl
chr2:23428334..23428468hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14393622
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)nsv3178688
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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