A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3283968



Internal ID22382325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:26785055..26785355hg38UCSC Ensembl
chr12:26937988..26938288hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14420324
SamplesHG00514
Known GenesITPR2
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)nsv3283968
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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