A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3282965



Internal ID22381303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:172315259..172321384hg38UCSC Ensembl
chr2:173179987..173186112hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg386126
hg196126
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4899n152
Supporting Variantsnssv14433434, nssv14466892
SamplesHG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3282965
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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