A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3173540



Internal ID22332372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:105054591..105054692hg38UCSC Ensembl
chr2:105671049..105671150hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14420250
SamplesHG00514
Known GenesMRPS9
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3173540
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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