A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4752986



Internal ID20528846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:49713437..49713437hg38UCSC Ensembl
chr7:49753033..49753033hg19UCSC Ensembl
Cytoband7p12.2
Allele length
AssemblyAllele length
hg386199
hg196199
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16277583
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4752986
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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