A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199618



Internal ID22349179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:79340613..79429232hg38UCSC Ensembl
Outerchr2:79567739..79656358hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3888620
hg1988620
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264736
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199618
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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