A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4744094



Internal ID20520089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:154215266..154215513hg38UCSC Ensembl
chr1:154187742..154187989hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38248
hg19248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16264799
Samples
Known GenesC1orf43
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4744094
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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