A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197573



Internal ID22347437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:38852703..38852850hg38UCSC Ensembl
chr13:39426840..39426987hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14445289
SamplesHG00733
Known GenesFREM2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197573
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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