A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508579



Internal ID15480255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:44214322..44303808hg38UCSC Ensembl
Outerchr10:44709770..44799256hg19UCSC Ensembl
Outerchr10:44029776..44119262hg18UCSC Ensembl
Outerchr10:44029776..44119262hg17UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg3889487
hg1989487
hg1889487
hg1789487
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618909
SamplesNA10860
Known GenesLOC100130539
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)nsv508579
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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