A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3280077



Internal ID22378386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:112432886..112433064hg38UCSC Ensembl
chr2:113190463..113190641hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38179
hg19179
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14462352, nssv14433796
SamplesHG00733, HG00514
Known GenesRGPD5, RGPD8
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)nsv3280077
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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