A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241012



Internal ID22374848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:13069830..13117658hg38UCSC Ensembl
Outerchr21:14442151..14489979hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg384667
hg194667
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267171, nssv14267170
SamplesNA19240, HG00514
Known GenesANKRD30BP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3241012
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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