A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6484330



Internal ID21141883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:63605146..63716697hg38UCSC Ensembl
chr14:64071864..64183415hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg38111552
hg19111552
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18182346
Samples
Known GenesSGPP1, WDR89
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6484330
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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