A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508198



Internal ID15824225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:209071053..209085362hg38UCSC Ensembl
Outerchr2:209935777..209950086hg19UCSC Ensembl
Outerchr2:209644022..209658331hg18UCSC Ensembl
Outerchr2:209761283..209775592hg17UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3814310
hg1914310
hg1814310
hg1714310
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617469
SamplesCHM
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)nsv508198
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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