A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4767325



Internal ID20543185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:162527269..162527269hg38UCSC Ensembl
chr1:162497059..162497059hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38294
hg19294
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16285524
Samples
Known GenesUHMK1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4767325
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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