A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5467011



Internal ID244833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:142247191..142247247hg38UCSC Ensembl
chr6:142568328..142568384hg19UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16970315
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5467011
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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