A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6502714



Internal ID20875961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2654071..2662548hg38UCSC Ensembl
chr17:2557365..2565842hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg388478
hg198478
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18186166
Samples
Known GenesPAFAH1B1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6502714
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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