A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17598430



Internal ID21790475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:44966257..44969312hg38UCSC Ensembl
chr14:45435460..45438515hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg383056
hg193056
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6037556
Supporting Variants
Samples
Known GenesFAM179B
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17598430
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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