A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13695798



Internal ID21217652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45330023..45330023hg38UCSC Ensembl
chr1:45795695..45795695hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2801873
Supporting Variants
Samples
Known GenesMUTYH
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13695798
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.3125


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