A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199220



Internal ID22348838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:117181080..117224241hg38UCSC Ensembl
Outerchr2:117938656..117981817hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg3843162
hg1943162
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265231
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199220
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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