A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191519



Internal ID22342215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:7644022..7644090hg38UCSC Ensembl
chr19:7708908..7708976hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14420888, nssv14393877, nssv14446269
SamplesNA19240, HG00733, HG00514
Known GenesSTXBP2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191519
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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