A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4740399



Internal ID20516374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247490454..247491900hg38UCSC Ensembl
chr1:247653756..247655202hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381447
hg191447
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16264478
Samples
Known GenesOR2W5
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4740399
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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