A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4764992



Internal ID20540852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:39578743..39578743hg38UCSC Ensembl
chr1:40044415..40044415hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38288
hg19288
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16269994
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4764992
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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