A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18180029



Internal ID20747069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73138337..73145146hg38UCSC Ensembl
chr14:73605045..73611854hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg386810
hg196810
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6488680
Supporting Variants
Samples
Known GenesPSEN1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18180029
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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