A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4757950



Internal ID20533810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:22575421..22575421hg38UCSC Ensembl
chr1:22901914..22901914hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16295746
Samples
Known GenesEPHA8
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4757950
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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