A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5895018



Internal ID22670095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:53031100..53031290hg38UCSC Ensembl
chr3:53065116..53065306hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38191
hg19191
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17411299
Samples
Known GenesSFMBT1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5895018
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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