A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4445129



Internal ID22111309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45554576..45554661hg38UCSC Ensembl
chr12:45948359..45948444hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15756458
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=SIMPLEDEL
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4445129
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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