A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6026179



Internal ID21935522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50426696..50566152hg38UCSC Ensembl
chr17:48504057..48643513hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38139457
hg19139457
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17619986
Samples
Known GenesACSF2, CACNA1G, CACNA1G-AS1, CHAD, EPN3, MYCBPAP, RSAD1, SPATA20
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6026179
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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