A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4743380



Internal ID20519368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42813065..42813121hg38UCSC Ensembl
chr17:40965083..40965139hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16288607
Samples
Known GenesBECN1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4743380
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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