A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6138330



Internal ID337514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149106587..149112587hg38UCSC Ensembl
chr1:144584645..144590650hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg386001
hg196006
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16890521
Samples
Known GenesLOC100288142
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6138330
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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