A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17358537



Internal ID22584206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:11239516..11239516hg38UCSC Ensembl
chr1:11299573..11299573hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38490
hg19490
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5950137
Supporting Variants
Samples
Known GenesMTOR
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17358537
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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