A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15703848



Internal ID21376124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:11993069..11993330hg38UCSC Ensembl
chr1:12053126..12053387hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38262
hg19262
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4390857
Supporting Variants
Samples
Known GenesMFN2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceWong_et_al_2019
Pubmed ID31340865
Accession Number(s)nssv15703848
Frequency
Sample Size174
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0201149


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