A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6489846



Internal ID21147399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:52925591..52935344hg38UCSC Ensembl
chr14:53392309..53402062hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg389754
hg199754
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18187481
Samples
Known GenesFERMT2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6489846
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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