A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4445716



Internal ID22111893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121851677..121852022hg38UCSC Ensembl
chr12:122289583..122289928hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38346
hg19346
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15760814
Samples
Known GenesHPD
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=SIMPLEDEL
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4445716
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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