A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508554



Internal ID15824581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:81286237..81356756hg38UCSC Ensembl
Outerchr9:83901152..83971671hg19UCSC Ensembl
Outerchr9:83090972..83161491hg18UCSC Ensembl
Outerchr9:81130706..81201225hg17UCSC Ensembl
Cytoband9q21.31
Allele length
AssemblyAllele length
hg3870520
hg1970520
hg1870520
hg1770520
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618856
SamplesNA10860
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)nsv508554
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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