A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192679



Internal ID22343226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:177673403..177682164hg38UCSC Ensembl
chr5:177100404..177109165hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg388762
hg198762
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7650n152
Supporting Variantsnssv14411901
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192679
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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