A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6511836



Internal ID20885166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45114118..45114665hg38UCSC Ensembl
chr17:43191486..43192033hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38548
hg19548
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18180072
Samples
Known GenesMIR6784, PLCD3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6511836
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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