A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205537



Internal ID22354213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:186802291..186814290hg38UCSC Ensembl
Outerchr2:187667018..187679017hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3812000
hg1912000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263818, nssv14263817
SamplesNA19238, NA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3205537
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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