A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15705453



Internal ID21377729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101362526..101363179hg38UCSC Ensembl
chr12:101756304..101756957hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38654
hg19654
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4390435
Supporting Variants
Samples
Known GenesUTP20
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceWong_et_al_2019
Pubmed ID31340865
Accession Number(s)nssv15705453
Frequency
Sample Size174
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.557471


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