A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16265274



Internal ID20474492
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 StatusS
Merged Variantsnsv4733481
Supporting Variants
Samples
Known GenesBMP8B
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16265274
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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