A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14314290



Internal ID22308013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:75626633..75626689hg38UCSC Ensembl
chr4:76551817..76551873hg19UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3524911
Supporting Variants
SamplesNA19240
Known GenesCDKL2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14314290
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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