A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5934946



Internal ID22710280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:81383468..81384539hg38UCSC Ensembl
chr14:81849812..81850883hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg381072
hg191072
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17375846
Samples
Known GenesSTON2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5934946
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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