A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16266448



Internal ID20475666
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 StatusS
Merged Variantsnsv4754531
Supporting Variants
Samples
Known GenesLMBR1L
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16266448
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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