A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5956851



Internal ID22732007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45330022..45330022hg38UCSC Ensembl
chr1:45795694..45795694hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17376025
Samples
Known GenesMUTYH
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5956851
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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