A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6531227



Internal ID20904588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48098607..48113965hg38UCSC Ensembl
chr17:46175969..46191327hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3815359
hg1915359
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18196791
Samples
Known GenesCBX1, SNX11
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6531227
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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