A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3283491



Internal ID22381838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:137145034..137145205hg38UCSC Ensembl
chr9:140039486..140039657hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38172
hg19172
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14412548, nssv14378396
SamplesNA19240, HG00514
Known GenesGRIN1
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)nsv3283491
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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