A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17461989



Internal ID22519874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:81383449..81384498hg38UCSC Ensembl
chr14:81849793..81850842hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg381050
hg191050
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5847929
Supporting Variants
Samples
Known GenesSTON2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17461989
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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