A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16265512



Internal ID20474730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:145547705..145548944hg38UCSC Ensembl
chr4:146468857..146470096hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4733318
Supporting Variants
Samples
Known GenesSMAD1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16265512
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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