A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6503236



Internal ID20876489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42540093..42540674hg38UCSC Ensembl
chr17:40692111..40692692hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38582
hg19582
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18188366
Samples
Known GenesNAGLU
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6503236
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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