A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508560



Internal ID15480236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:107244209..107298258hg38UCSC Ensembl
Outerchr9:110006490..110060539hg19UCSC Ensembl
Outerchr9:109046311..109100360hg18UCSC Ensembl
Outerchr9:107086045..107140094hg17UCSC Ensembl
Cytoband9q31.2
Allele length
AssemblyAllele length
hg3854050
hg1954050
hg1854050
hg1754050
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622615, nssv618861, nssv620028
SamplesNA18994, NA15510, NA10860
Known GenesRAD23B
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)nsv508560
Frequency
Sample Size4
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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