A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5463681



Internal ID241576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:72962971..72963028hg38UCSC Ensembl
chr6:73672694..73672751hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16984581
Samples
Known GenesKCNQ5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5463681
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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