A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4730437



Internal ID20506349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:69807339..69807526hg38UCSC Ensembl
chr12:70201119..70201306hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38188
hg19188
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16258930
Samples
Known GenesRAB3IP
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4730437
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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