A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4755836



Internal ID20531696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53290713..53290713hg38UCSC Ensembl
chr12:53684497..53684497hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16266609
Samples
Known GenesESPL1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4755836
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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