A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6612594



Internal ID20985665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:131089955..131408899hg38UCSC Ensembl
chr6:131411095..131730039hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg38318945
hg19318945
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18215554
Samples
Known GenesAKAP7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6612594
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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