A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508607



Internal ID15480283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:110571773..110655342hg38UCSC Ensembl
Outerchr10:112331531..112415100hg19UCSC Ensembl
Outerchr10:112321521..112405090hg18UCSC Ensembl
Outerchr10:112321521..112405090hg17UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg3883570
hg1983570
hg1883570
hg1783570
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618965
SamplesNA10860
Known GenesRBM20, SMC3
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)nsv508607
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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