A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5426863



Internal ID205778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:57446944..57447872hg38UCSC Ensembl
chr1:57912616..57913544hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg38929
hg19929
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16902825
Samples
Known GenesDAB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5426863
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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