A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6485082



Internal ID21142635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:39033301..39038000hg38UCSC Ensembl
chr13:39607438..39612137hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg384700
hg194700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18192953
Samples
Known GenesPROSER1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6485082
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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