A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18180229



Internal ID20747269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:31558601..31563700hg38UCSC Ensembl
chr14:32027807..32032906hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg385100
hg195100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6491330
Supporting Variants
Samples
Known GenesNUBPL
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18180229
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00013


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