A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6505425



Internal ID20878694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2592801..2594600hg38UCSC Ensembl
chr17:2496095..2497894hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg381800
hg191800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18184685
Samples
Known GenesPAFAH1B1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6505425
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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