A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18195327



Internal ID20762367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:77025401..77027100hg38UCSC Ensembl
chr14:77491744..77493443hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg381700
hg191700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6483941
Supporting Variants
Samples
Known GenesIRF2BPL
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18195327
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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