A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4733481



Internal ID20509411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:39776351..39778284hg38UCSC Ensembl
chr1:40242023..40243956hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg381934
hg191934
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16265274
Samples
Known GenesBMP8B
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4733481
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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