A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4443418



Internal ID22109601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:143801110..143801262hg38UCSC Ensembl
chr2:144558679..144558831hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg38153
hg19153
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15761816
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=CONTRAC
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4443418
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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