A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4753564



Internal ID20529424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32228556..32228556hg38UCSC Ensembl
chr5:32228662..32228662hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16283650
Samples
Known GenesMTMR12
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4753564
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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