A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4743433



Internal ID20519421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:128731741..128731889hg38UCSC Ensembl
chr3:128450584..128450732hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16267907
Samples
Known GenesRAB7A
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4743433
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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