A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18016254



Internal ID20583294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:24917629..25034111hg38UCSC Ensembl
chr14:25386835..25503317hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38116483
hg19116483
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6487747
Supporting Variants
Samples
Known GenesSTXBP6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18016254
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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