A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4738468



Internal ID20514437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:29248415..29248605hg38UCSC Ensembl
chr17:27575433..27575623hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38191
hg19191
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16287958
Samples
Known GenesCRYBA1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4738468
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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