A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17387433



Internal ID22445303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64973893..64973893hg38UCSC Ensembl
chr14:65440611..65440611hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38236
hg19236
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5970016
Supporting Variants
Samples
Known GenesCHURC1-FNTB
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17387433
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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