A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4749060



Internal ID20525089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:36257664..36257732hg38UCSC Ensembl
chr21:37629962..37630030hg19UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16271917
Samples
Known GenesDOPEY2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4749060
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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