A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202974



Internal ID22352062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:221365496..221377079hg38UCSC Ensembl
chr2:222230216..222241799hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg3811584
hg1911584
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14459527
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3202974
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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