A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4756199



Internal ID20532059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226649031..226649031hg38UCSC Ensembl
chr1:226836732..226836732hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16267734
Samples
Known GenesITPKB
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4756199
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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