A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3284603



Internal ID22382969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1052532..1052664hg38UCSC Ensembl
chr17:955772..955904hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3414n152
Supporting Variantsnssv14453429
SamplesHG00733
Known GenesABR
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)nsv3284603
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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