A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14406148



Internal ID22287239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:7449479..7452040hg38UCSC Ensembl
chr19:7514365..7516926hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg382562
hg192562
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202024
Supporting Variants
SamplesNA19240
Known GenesARHGEF18
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14406148
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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