A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5855957



Internal ID22630892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:14511131..14514133hg38UCSC Ensembl
chr12:14664065..14667067hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg383003
hg193003
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17449859
Samples
Known GenesPLBD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5855957
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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