A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3284535



Internal ID22382900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:88295031..88295178hg38UCSC Ensembl
chr16:88328637..88328784hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3333n152
Supporting Variantsnssv14453634
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)nsv3284535
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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