A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220330



Internal ID22365055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:49271248..49274705hg38UCSC Ensembl
OuterchrX:49127711..49131168hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3837863
hg1937863
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269106
SamplesNA19238
Known GenesPPP1R3F
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220330
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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