A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4445799



Internal ID22111976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:125114662..125114737hg38UCSC Ensembl
chr12:125599208..125599283hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15762875
Samples
Known GenesAACS
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=CONTRAC
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4445799
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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