A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4446132



Internal ID22112311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:130882146..130882682hg38UCSC Ensembl
chr12:131366691..131367227hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38537
hg19537
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15756073
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=SIMPLEDEL
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4446132
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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