A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18182732



Internal ID20749772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50632501..50634000hg38UCSC Ensembl
chr14:51099219..51100718hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg381500
hg191500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6484758
Supporting Variants
Samples
Known GenesATL1, SAV1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18182732
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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