A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6029723



Internal ID21939066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32717230..32717638hg38UCSC Ensembl
chr12:32870164..32870572hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38409
hg19409
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17614012
Samples
Known GenesDNM1L
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6029723
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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