A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6482659



Internal ID21140212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:24948074..24950297hg38UCSC Ensembl
chr14:25417280..25419503hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg382224
hg192224
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18016257
Samples
Known GenesSTXBP6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6482659
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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