A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3285187



Internal ID22383561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:413795..413855hg38UCSC Ensembl
chr17:263586..263646hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3395n152
Supporting Variantsnssv14404747
SamplesNA19240
Known GenesC17orf97
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)nsv3285187
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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