A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193123



Internal ID22343609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:102003002..102003186hg38UCSC Ensembl
chr2:102619464..102619648hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38185
hg19185
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14294094, nssv14294093
SamplesHG00512, HG00732
Known GenesIL1R2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193123
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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