A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18198279



Internal ID20765319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50425079..50502566hg38UCSC Ensembl
chr19:50928336..51005823hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3877488
hg1977488
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6522308
Supporting Variants
Samples
Known GenesEMC10, FAM71E1, MYBPC2, SPIB
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18198279
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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