A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6521582



Internal ID20894943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:79087487..79585833hg38UCSC Ensembl
chr17:77083569..77546461hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38498347
hg19462893
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18177255
Samples
Known GenesENGASE, RBFOX3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6521582
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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