A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200999



Internal ID22350369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:118892539..118904955hg38UCSC Ensembl
Outerchr2:119650115..119662531hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg3812417
hg1912417
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263753, nssv14263755, nssv14263756, nssv14263754, nssv14263751, nssv14263752
SamplesHG00512, NA19238, NA19239, NA19240, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200999
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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