A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6485953



Internal ID21143506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:47652698..47811316hg38UCSC Ensembl
chr14:48121901..48280519hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38158619
hg19158619
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18188220
Samples
Known GenesLINC00648, MDGA2, MIR548Y
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6485953
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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