A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5464461



Internal ID242338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:52318656..52318716hg38UCSC Ensembl
chr6:52183454..52183514hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16981856
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5464461
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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