A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6138071



Internal ID337253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:85747835..85753835hg38UCSC Ensembl
chr1:86213518..86219518hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16908217
Samples
Known GenesCOL24A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6138071
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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