A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509800



Internal ID15477298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44284048..44471571hg38UCSC Ensembl
Outerchr21:45703931..45891454hg19UCSC Ensembl
Outerchr21:44528359..44715882hg18UCSC Ensembl
Outerchr21:44528359..44715882hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3810649
hg1910649
hg1810649
hg1710649
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619863
SamplesNA10860
Known GenesAIRE, C21orf2, LRRC3, LRRC3-AS1, PFKL, TRPM2
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nsv509800
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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