A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3524911



Internal ID22381440
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14314288, nssv14314289, nssv14314290
SamplesNA19238, HG00732, NA19240
Known GenesCDKL2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3524911
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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