A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3542652



Internal ID22411730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:14830288..14830288hg38UCSC Ensembl
chr4:14831912..14831912hg19UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg383186
hg193186
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14397230, nssv14424211
SamplesNA19240, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3542652
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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