A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508550



Internal ID15480226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:69064250..69194517hg38UCSC Ensembl
Outerchr9:71679166..71809433hg19UCSC Ensembl
Outerchr9:70868986..70999253hg18UCSC Ensembl
Outerchr9:68908720..69038987hg17UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg38130268
hg19130268
hg18130268
hg17130268
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620025, nssv618855, nssv622610
SamplesNA18994, NA15510, NA10860
Known GenesFXN, TJP2
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)nsv508550
Frequency
Sample Size4
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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