A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4432049



Internal ID21394051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:100062664..100083663hg38UCSC Ensembl
chr14:100529001..100550000hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3821000
hg1921000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15753756
SamplesSMI041
Known GenesEVL
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4432049
Frequency
Sample Size15
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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