A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4747958



Internal ID20523981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40086681..40087942hg38UCSC Ensembl
chr1:40552353..40553614hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg381262
hg191262
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16262500
Samples
Known GenesPPT1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4747958
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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