A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620030



Internal ID15472701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:133013830..133073076hg38UCSC Ensembl
Outerchr9:135889217..135948463hg19UCSC Ensembl
Outerchr9:134879038..134938284hg18UCSC Ensembl
Outerchr9:132918771..132978017hg17UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg3859247
hg1959247
hg1859247
hg1759247
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508564
Supporting Variants
SamplesNA15510
Known GenesCEL, GTF3C5, MIR6877
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)nssv620030
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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