A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4743830



Internal ID20519821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:110408790..110408942hg38UCSC Ensembl
chr13:111061137..111061289hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38153
hg19153
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16296567
Samples
Known GenesCOL4A2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4743830
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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