A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3287233



Internal ID22385634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:1038886..1039012hg38UCSC Ensembl
chr10:1084826..1084952hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14459121
SamplesHG00733
Known GenesIDI2-AS1
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)nsv3287233
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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