A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18177255



Internal ID20744295
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 StatusS
Merged Variantsnsv6521582
Supporting Variants
Samples
Known GenesENGASE, RBFOX3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18177255
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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