A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18188220



Internal ID20755260
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 StatusS
Merged Variantsnsv6485953
Supporting Variants
Samples
Known GenesLINC00648, MDGA2, MIR548Y
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18188220
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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