A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5444187



Internal ID222567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226224674..226234911hg38UCSC Ensembl
chr1:226412375..226422612hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3810238
hg1910238
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896804
Samples
Known GenesLIN9, MIXL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5444187
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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