A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4765301



Internal ID20541161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:74203862..74203862hg38UCSC Ensembl
chr2:74430989..74430989hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16288080
Samples
Known GenesMTHFD2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4765301
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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