A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619014



Internal ID15818818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:25445051..25498533hg38UCSC Ensembl
Outerchr21:26817363..26870845hg19UCSC Ensembl
Outerchr21:25739234..25792716hg18UCSC Ensembl
Outerchr21:25739234..25792716hg17UCSC Ensembl
Cytoband21q21.2
Allele length
AssemblyAllele length
hg3853483
hg1953483
hg1853483
hg1753483
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510791
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)nssv619014
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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