A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4754531



Internal ID20530391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49100922..49100922hg38UCSC Ensembl
chr12:49494705..49494705hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16266448
Samples
Known GenesLMBR1L
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4754531
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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