A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6350399



Internal ID21007952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:143022001..143025100hg38UCSC Ensembl
chr2:143779570..143782669hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg383100
hg193100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18207288
Samples
Known GenesKYNU
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6350399
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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