A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619853



Internal ID15818434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:14392343..14439822hg38UCSC Ensembl
Outerchr21:15764664..15812143hg19UCSC Ensembl
Outerchr21:14686535..14734014hg18UCSC Ensembl
Outerchr21:14686535..14734014hg17UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg389976
hg199976
hg189976
hg179976
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509787
Supporting Variants
SamplesNA10860
Known Genes
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)nssv619853
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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