A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14311774



Internal ID22272570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1805026..1805300hg38UCSC Ensembl
chr4:1806753..1807027hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210140
Supporting Variants
SamplesNA19239
Known GenesFGFR3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14311774
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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