A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219467



Internal ID22364483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2035424..2035502hg38UCSC Ensembl
chr17:1938718..1938796hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3427n152
Supporting Variantsnssv14431589
SamplesHG00514
Known GenesDPH1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219467
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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