A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4445613



Internal ID22111791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:183957736..183957896hg38UCSC Ensembl
chr3:183675524..183675684hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg38161
hg19161
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15759778
Samples
Known GenesABCC5
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=CONTRAC
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4445613
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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