A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17384873



Internal ID22442743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64429261..64429261hg38UCSC Ensembl
chr14:64895979..64895979hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5979681
Supporting Variants
Samples
Known GenesMIR548AZ, MTHFD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17384873
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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