A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5952201



Internal ID22727521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:165892146..165892146hg38UCSC Ensembl
chr1:165861383..165861383hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg38488
hg19488
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17365362
Samples
Known GenesUCK2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5952201
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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