A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6138419



Internal ID337603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2762290..3300400hg38UCSC Ensembl
chr1:2684221..3216964hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38538111
hg19532744
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16901670
Samples
Known GenesACTRT2, LINC00982, MIR4251, PRDM16, TTC34
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6138419
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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