A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508562



Internal ID15824589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:110237264..110276888hg38UCSC Ensembl
Outerchr9:112999544..113039168hg19UCSC Ensembl
Outerchr9:112039365..112078989hg18UCSC Ensembl
Outerchr9:110079099..110118723hg17UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg3839625
hg1939625
hg1839625
hg1739625
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622616
SamplesNA18994
Known GenesTXN
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)nsv508562
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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