A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6533131



Internal ID20906492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:58139001..58163400hg38UCSC Ensembl
chr17:56216362..56240761hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3824400
hg1924400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18180445
Samples
Known GenesMSX2P1, OR4D1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6533131
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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