A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3542729



Internal ID22411803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:170716807..170716807hg38UCSC Ensembl
chr2:171573317..171573317hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3858754
hg1958754
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14421485
SamplesHG00514
Known GenesSP5
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3542729
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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