A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17092004



Internal ID21501471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64452858..64452858hg38UCSC Ensembl
chr14:64919576..64919576hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38333
hg19333
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5647549
Supporting Variants
SamplesNA19239
Known GenesMIR548AZ, MTHFD1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17092004
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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