A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4753989



Internal ID20529849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:94877132..94877132hg38UCSC Ensembl
chr1:95342688..95342688hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38288
hg19288
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16287449
Samples
Known GenesSLC44A3
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4753989
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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