A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3544007



Internal ID22413052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:16967862..16967862hg38UCSC Ensembl
chr19:17078672..17078672hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14420080, nssv14447980
SamplesHG00733, HG00514
Known GenesCPAMD8
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3544007
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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