A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6454741



Internal ID21112294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:123378397..123384910hg38UCSC Ensembl
chr9:126140676..126147189hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg386514
hg196514
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18229575
Samples
Known GenesCRB2, DENND1A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6454741
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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