A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5472525



Internal ID250231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:139727495..139735783hg38UCSC Ensembl
chr6:140048632..140056920hg19UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg388289
hg198289
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16970199
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5472525
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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