A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6527702



Internal ID20901063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48065492..48084228hg38UCSC Ensembl
chr17:46142854..46161590hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3818737
hg1918737
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18179023
Samples
Known GenesCBX1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6527702
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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