A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5460166



Internal ID238160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:131091485..131136455hg38UCSC Ensembl
chr6:131412625..131457595hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg3844971
hg1944971
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16969450
Samples
Known GenesAKAP7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5460166
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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