A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4442819



Internal ID22109001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:40212130..40212184hg38UCSC Ensembl
chr3:40253621..40253675hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15766630
Samples
Known GenesEIF1B-AS1, MYRIP
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=CONTRAC
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4442819
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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