A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197395



Internal ID22347283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:202396429..202479174hg38UCSC Ensembl
Outerchr2:203261152..203343897hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3882746
hg1982746
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263842, nssv14263843
SamplesNA19238, NA19239
Known GenesBMPR2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197395
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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