A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4746046



Internal ID20522057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30523626..30523678hg38UCSC Ensembl
chr17:28850644..28850696hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16294284
Samples
Known GenesGOSR1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4746046
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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