A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3188300



Internal ID22340175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:53923793..53925222hg38UCSC Ensembl
chr4:54789960..54791389hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg381430
hg191430
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6606n152
Supporting Variantsnssv14451767
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3188300
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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