A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3190570



Internal ID22341419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:5144451..5144526hg38UCSC Ensembl
chr19:5144462..5144537hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4100n152
Supporting Variantsnssv14446234, nssv14420848
SamplesHG00733, HG00514
Known GenesKDM4B
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3190570
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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