A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6498281



Internal ID20871490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28888293..28925540hg38UCSC Ensembl
chr17:27215311..27252558hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3837248
hg1937248
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18190076
Samples
Known GenesDHRS13, FLOT2, PHF12
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6498281
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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