A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447960



Internal ID226249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:228653789..228670973hg38UCSC Ensembl
chr1:228789536..228806720hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3817185
hg1917185
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16897544
Samples
Known GenesRHOU
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447960
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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