A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6480369



Internal ID21137922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49896295..49929978hg38UCSC Ensembl
chr13:50470431..50504114hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3833684
hg1933684
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18188977
Samples
Known GenesSPRYD7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6480369
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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