A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200335



Internal ID22349803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:141709003..141709055hg38UCSC Ensembl
chr4:142630156..142630208hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6869n152
Supporting Variantsnssv14435185
SamplesHG00514
Known GenesIL15
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200335
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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