A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6444987



Internal ID21102540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:132916912..133049166hg38UCSC Ensembl
chr9:135792299..135924553hg19UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg38132255
hg19132255
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18235547
Samples
Known GenesGFI1B, GTF3C5, TSC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6444987
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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