A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4757364



Internal ID20533224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1207535..1207535hg38UCSC Ensembl
chr4:1201323..1201323hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16283024
Samples
Known GenesLOC100130872, SPON2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4757364
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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