A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3295731



Internal ID22388447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:3173257..3174061hg38UCSC Ensembl
chr19:3173255..3174059hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38805
hg19805
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4080n152
Supporting Variantsnssv14458512
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3295731
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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