A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17613478



Internal ID21805525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:70294127..70301345hg38UCSC Ensembl
chr12:70687907..70695125hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg387219
hg197219
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6030297
Supporting Variants
Samples
Known GenesCNOT2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17613478
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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