A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5414055



Internal ID193341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40326060..40343508hg38UCSC Ensembl
chr1:40791732..40809180hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3817449
hg1917449
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16901541
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5414055
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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