A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5885347



Internal ID22660331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45356965..45357776hg38UCSC Ensembl
chr1:45822637..45823448hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38812
hg19812
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17388737
Samples
Known GenesTESK2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5885347
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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