A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3201370



Internal ID22350694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:21350647..21365595hg38UCSC Ensembl
Outerchr1:21677140..21692088hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3814949
hg1914949
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255568, nssv14255569
SamplesHG00512, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3201370
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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