A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4759939



Internal ID20535799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237521771..237521771hg38UCSC Ensembl
chr2:238430414..238430414hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38213
hg19213
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16294367
Samples
Known GenesMLPH
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4759939
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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