A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6509213



Internal ID20882521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4655557..4695866hg38UCSC Ensembl
chr17:4558852..4599161hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3840310
hg1940310
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18195680
Samples
Known GenesPELP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6509213
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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