A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197584



Internal ID22347448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:14954991..14955278hg38UCSC Ensembl
chr4:14956615..14956902hg19UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg38288
hg19288
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6492n152
Supporting Variantsnssv14409462
SamplesNA19240
Known GenesCPEB2-AS1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197584
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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