A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4754002



Internal ID20529862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:58462740..58462740hg38UCSC Ensembl
chr12:58856523..58856523hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16264279
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4754002
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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