A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6546972



Internal ID20920182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:58980501..58982200hg38UCSC Ensembl
chr20:57555556..57557255hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg381700
hg191700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18203343
Samples
Known GenesNELFCD
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6546972
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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